Abstract
Background
Hereditary and wild-type transthyretin-mediated (ATTRv and ATTRwt) amyloidoses result from the misfolding of transthyretin and aggregation of amyloid plaques in multiple organ systems. Diagnosis of ATTR amyloidosis is often delayed due to its heterogenous and non-specific presentation. This review investigates the association of musculoskeletal (MSK) manifestations with ATTR amyloidosis and the delay from the onset of these manifestations to the diagnosis of ATTR amyloidosis.
Methods
This systematic review utilized Medline and EMBASE databases. Search criteria were outlined using a pre-specified patient, intervention, comparator, outcome, time, study (PICOTS) criteria and included: amyloidosis, ATTR, and MSK manifestations. Publication quality was assessed utilizing Joanna Briggs Institute (JBI) critical appraisal checklists.
The search initially identified 7,139 publications, 164 of which were included. PICOTS criteria led to the inclusion of epidemiology, clinical burden and practice, pathophysiology, and temporality of MSK manifestations associated with ATTR amyloidosis. 163 publications reported on ATTR amyloidosis and MSK manifestations, and 13 publications reported on the delay in ATTR amyloidosis diagnosis following the onset of MSK manifestations.
Results
The MSK manifestation most frequently associated with ATTR amyloidosis was carpal tunnel syndrome (CTS); spinal stenosis (SS) and osteoarthritis (OA), among others, were also identified. The exact prevalence of different MSK manifestations in patients with ATTR amyloidosis remains unclear, as a broad range of prevalence estimates were reported. Moreover, the reported prevalence of MSK manifestations showed no clear trend or distinction in association between ATTRv and ATTRwt amyloidosis.
MSK manifestations precede the diagnosis of ATTR amyloidosis by years, and there was substantial variation in the reported delay to ATTR amyloidosis diagnosis. Reports do suggest a longer diagnostic delay in patients with ATTRv amyloidosis, with 2 to 12 years delay in ATTRv versus 1.3 to 1.9 years delay in ATTRwt amyloidosis.
Conclusion
These findings suggest that orthopedic surgeons may play a role in the early diagnosis of and treatment referrals for ATTR amyloidosis. Detection of MSK manifestations may enable earlier diagnosis and administration of effective treatments before disease progression occurs.
Similar content being viewed by others
Introduction
Background
Systemic amyloidoses are protein-misfolding diseases characterized by the aggregation and deposition of amyloid plaques in multiple organ systems [1, 2]. Transthyretin-mediated (ATTR) amyloidosis is caused by misfolding of the precursor protein transthyretin (TTR) [1, 2]. There are two types of ATTR amyloidoses, variant (ATTRv) [also known as hereditary or hATTR] and wild-type (ATTRwt) [2, 3]. In ATTRv amyloidosis, point variants in the TTR gene lead to destabilization and dissociation of TTR from its native tetrameric conformation, and subsequent aggregation as amyloid fibrils [4]. In ATTRwt amyloidosis, wild-type, non-variant TTR dissociates, and amyloid aggregation occurs [4]. ATTRwt and ATTRv amyloidoses overlap in their clinical presentation, and therefore, definitive distinction relies on TTR gene sequencing in suspected patients [2]. ATTRv amyloidosis affects approximately 50,000 people worldwide. While the exact prevalence of ATTRwt amyloidosis is unknown, it is thought to be more prevalent than ATTRv amyloidosis [1, 5].
ATTR amyloidosis is a heterogeneous, multisystem disease in which a significant proportion of patients develop a mixed phenotype of polyneuropathy (PN) and cardiomyopathy (CM) [2, 5, 6]. The disease is rapidly progressive; ATTRv and ATTRwt amyloidoses have a median survival of 4.7 years and 3.6 years after diagnosis, respectively, and disease progression substantially negatively impacts quality of life [5, 7, 8]. Diagnosis can be difficult or delayed due to the heterogenous, non-specific nature of ATTR amyloidosis and symptom overlap with other diseases [9,10,11]. Various musculoskeletal (MSK) manifestations, such as carpal tunnel syndrome (CTS), spinal stenosis (SS), osteoarthritis (OA), and others, have been reported in patients with ATTR amyloidosis [1]. Importantly, these MSK manifestations have been shown to precede the diagnosis of the disease by years [1, 4, 11].
Rationale
The typical patient journey before being diagnosed with ATTR amyloidosis is lengthy and involves consulting numerous physicians from different specialties [2, 11]. Consequently, ATTR amyloidosis may remain undetected, and treatment is often delayed until the disease progresses to an advanced stage. This diagnostic delay increases patient disability and morbidity, whereas earlier therapeutic intervention can attenuate disease progression and worsening in patient quality of life. [2]. Enabling earlier diagnosis of ATTR amyloidosis is critical to improving overall patient prognosis [1]. Various MSK manifestations have been reported in the literature to be associated with ATTR amyloidosis. Additionally, certain manifestations, such as CTS, symptoms of which can also be caused by the PN of ATTR amyloidosis, are already included among the early signs, which are considered ‘red flags’ for the disease.
This systematic review was conducted to investigate the association between ATTR amyloidosis and MSK manifestations, and to investigate the temporal association between the onset of MSK manifestations and ATTR amyloidosis diagnosis.
Methods
Search strategy and criteria
The protocol for this systematic review is registered on the international prospective register of systematic reviews (PROSPERO) from the National Institute for Health Research Database (www.crd.york.ac.uk/prospero; protocol no. CRD42022310956), and the PRISMA statement was adhered to [12].
An electronic database search was run on November 3, 2021 across two databases in Ovid®: Medline and EMBASE. No restriction on publication year was applied. Search strategies are detailed in Supplement 1.
Gray literature searches included hand searches of previously published systematic reviews and a review of conference proceedings from 2019 to 2021. Independent hand searches of conference proceedings were conducted for the American Association for Hand Surgery (AAHS), American Society for Surgery of the Hand (ASSH), European Society of Cardiology (ESC), European ATTR amyloidosis meeting (EU-ATTR), Federation of European Societies for the Surgery of the Hand (FESSH), International Federation of Societies for Surgery of the Hand (IFSSH), International Society of Amyloidosis (ISA), and the International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Conferences of interest that were not independently hand searched, given that the EMBASE electronic database search already captured their proceedings, included the American College of Cardiology (ACC), Heart Failure Society of America (HFSA), and the Peripheral Nerve Society (PNS).
Inclusion and exclusion criteria
The inclusion and exclusion criteria were pre-defined in a patient, intervention, comparator, outcome, time, study (PICOTS) table during protocol development (Supplement 2). These included outcomes related to the epidemiology, pathophysiology, temporal association (the time from the diagnosis of the MSK manifestation(s) to the diagnosis of ATTR amyloidosis), clinical burden, and current clinical practice related to MSK manifestations associated with ATTR amyloidosis. Publications reporting data only from patients diagnosed with amyloidoses other than ATTR amyloidosis were excluded, as were publications reporting on outcomes related to MSK manifestations outside of an ATTR amyloidosis context and/or publications reporting separately on either ATTR amyloidosis or MSK manifestations. Case series were included, while case reports involving individual patients were excluded [13]; for the list of those case reports by MSK manifestation, refer to Supplement 3.
All abstracts and full texts included were screened by two separate reviewers. Conflicts on inclusion or exclusion were resolved by a third senior reviewer.
Of the 7,139 publications identified, 164 publications were included in the analysis, as shown in the PRISMA diagram, (Fig. 1). Importantly, authors of the publications included approached the association between MSK manifestations and presence of ATTR amyloidosis differently. For example, some authors investigated MSK manifestations in patients with a confirmed diagnosis of ATTR amyloidosis, whereas other authors investigated the presence of ATTR amyloidosis in patients who had undergone treatment for MSK manifestations or who were diagnosed with a MSK manifestation, presented in Table 1.
PRISMA flow diagram of the study identification and screening process. ASSH = American Society for Surgery of the Hand; ESC = European Society of Cardiology; EU-ATTR = European transthyretin-mediated amyloidosis meeting; FESSH = Federation of European Societies for Surgery of the Hand; n = number; ISA = International Society of Amyloidosis; ISPO = International Society for Pharmacoeconomics and Outcomes Research; PNS = Peripheral Nerve Society; SLR = systematic literature review
One hundred sixty-three publications examined the association between MSK manifestations and ATTR amyloidosis (Fig. 2 provides an overview of studies and Tables 2, 3, 4, 5, 6 and 7 provide study details), and 13 publications investigated the temporal association between MSK manifestations and ATTR amyloidosis (Fig. 3 with study details reported in Table 8). One publication reported only on the temporal delay and did not report on the association between MSK manifestations and ATTR amyloidosis.
Number of publications reporting on various MSK manifestations associated with ATTR amyloidosis. Eight other publications reported on the association between ATTR amyloidosis and several different MSK manifestations in various combinations, the details of which are reported in Table 7
Time between MSK symptom onset and ATTR amyloidosis diagnosis
Assessment of study quality
A quality assessment of the included publications was performed by one reviewer (and cross-checked by a second to ensure accuracy with discrepancies settled by a third senior reviewer) using the most appropriate Joanna Briggs Institute (JBI) critical appraisal checklist. This assessment was conducted at the publication level [179].
Following the JBI quality assessment of the 163 publications examining the association between MSK manifestations and ATTR amyloidosis, 51 publications were identified as being at low risk of bias [179]. 87 publications had at least one quality domain that implied some potential bias. The most common reason was limited reporting on the method of participant selection and method of diagnosis. In the 25 remaining publications, insufficient information was reported to measure the potential risk of bias.
Of the 13 publications examining the temporal association, four were found to have a low risk of bias, seven had at least one quality domain that implied some potential bias, and in the remaining two publications, there was insufficient information reported to measure the potential risk of bias.
Data collection and data extraction
The following information from each included publication was extracted: (1) publication characteristics: title, author, publication year, study design, objectives, country, and data collection period, (2) population characteristics: ATTR amyloidosis diagnosis, MSK manifestation subgroup, sample size, and demographic data such as age and sex, (3) the direction of the association relationship (ATTR amyloidosis outcomes in patients with MSK manifestations or MSK manifestations outcomes in patients with ATTR amyloidosis), (4) outcomes as defined in the PICOTS criteria (Supplement 2). Each independent reviewer piloted the data extraction form, and discussions were held to inform any necessary refinements. Data extraction was performed by one reviewer and cross-checked by a second to ensure accuracy. Discrepancies were settled by a third senior reviewer.
Results
What evidence supports the association between ATTR amyloidosis and MSK manifestations?
Most studies reported an association between ATTR amyloidosis and CTS (Tables 2 and 3); however, SS, OA, biceps tendon rupture (BTR), rotator cuff injury (RCI), and trigger finger (TF) were also reported and those studies are detailed in Tables 4, 5, 6 and 7. The association between MSK manifestations and the presence of ATTR amyloidosis were reported bi-directionally; for example, some authors investigated CTS in patients with a confirmed diagnosis of ATTR amyloidosis (Table 2), whereas other authors investigated the presence of ATTR amyloidosis in patients who had undergone treatment for CTS (Table 3). When case series were excluded, the prevalence of CTS in patients with ATTR amyloidosis (inclusive of ATTRv and ATTRwt) ranged between 0.5 and 80% (Table 2) [17, 100], and the prevalence of ATTR amyloidosis (inclusive of ATTRv and ATTRwt) in patients with CTS and/or a history of carpal tunnel release (CTR) surgery ranged between 0.9 and 38% (Table 3) [106, 122]. The prevalence of ATTRv amyloidosis in patients with a history of CTR surgery was higher, at 87.5% [113]. Due to the heterogeneity of the studies’ methodologies and approaches, it is not possible to directly compare the prevalences reported. Two publications investigated the prevalence of ATTRv and ATTRwt amyloidoses separately in the same cohort of patients with CTS, finding that ATTRwt amyloidosis was more prevalent in both instances [106, 110].
The prevalence range for SS in patients with ATTR amyloidosis (inclusive of ATTRv and ATTRwt) was narrower than the range reported for CTS, at 8.4–22.0% [123, 124] (Table 4). As observed with CTS, the range of prevalence of ATTR amyloidosis in patients with SS was broader than the range of SS prevalence in patients with ATTR amyloidosis, at 5.0–45.3% (Table 4) [125,126,127,128,129,130,131]. Where patients with ATTRwt amyloidosis were the focus, the prevalence of SS ranged between 19.0 and 45.3% [130, 131]. Comparably, Cortese et al. found that in a cohort of patients with ATTRv amyloidosis, 22.0% of patients had previously been diagnosed with SS [124]. In reports where the prevalence of both CTS and SS was explored in the same cohort of patients with ATTR amyloidosis (Table 5), CTS was more prevalent than SS in patients with ATTRv amyloidosis [134,135,136, 143, 147], as well as in patients with ATTRwt amyloidosis [139].
Several studies investigated ATTR amyloidosis in OA [153,154,155,156,157,158,159,160], and two database/registry studies investigated the presence of OA in patients with ATTR amyloidosis [161, 162] (Table 6). The studies which investigated ATTR amyloidosis in OA explored either the prevalence of amyloid or TTR deposits in patients with OA. In three publications, the presence of amyloid deposits led to a diagnosis of ATTR amyloidosis [157, 158, 160]. For those studies which investigated ATTR amyloidosis in OA, the association between OA and ATTR amyloidosis was confirmed through the staining of biopsy samples taken from the knee and/or hip with Congo red, a standard method used to identify amyloid [153,154,155,156,157,158,159,160]. In patients biopsied during total hip arthroplasty (THA), the prevalence of amyloid deposits in the synovial membrane was 22.0%, leading to a diagnosis of ATTRwt amyloidosis in these patients [157]. In patients biopsied during total knee arthroplasty (TKA), the prevalence of amyloid deposits ranged from 8.1 to 33.0% [158, 159]. In an autopsy study by Akasaki et al., TTR amyloid deposits were present in the knee cartilage and synovial fluid in all 12 autopsies of individuals with OA; no analyses of whether systemic ATTR amyloidosis was present were conducted [153,154,155]. With respect to the database/registry studies which reported OA in patients with ATTR amyloidosis, the study by Paccagnella et al., reported on 29 patients with ATTR amyloidosis, finding 59% having had THA and 41% having had TKA [161]. The second study by Ruben et al., reported on 156 patients with unspecified ATTR amyloidosis with CM, finding 12.8% having had THA and 14.1% having had TKA [162].
What is the temporal association between MSK manifestation onset and ATTR amyloidosis diagnosis?
The publications reporting on the temporal association between MSK manifestation onset and a diagnosis of ATTR amyloidosis were limited to CTS, SS, and OA (Fig. 3; Table 8).
Across all CTS-focused publications, CTS symptom onset preceded a diagnosis of ATTR amyloidosis (ATTRv and ATTRwt inclusive) by up to 12 years [21, 23, 44, 47, 49, 57, 96, 105, 109, 134]. In publications reporting on ATTRv amyloidosis separately, the time between CTS symptom onset and diagnosis of ATTRv ranged from 2 to 12 years [21, 44, 47, 49, 134]. This range was 1.3 to 1.9 years in publications reporting on ATTRwt amyloidosis separately [57, 96].
Three studies investigated the temporal association between SS and ATTR amyloidosis; one reported SS symptom onset preceding a diagnosis of ATTRv amyloidosis by approximately 2 years [178], while another reported a 7.4 years delay before an ATTRwt amyloidosis diagnosis [140]. In the same cohort of patients with ATTRwt amyloidosis, CTS symptom onset occurred even earlier than SS symptom onset, preceding the diagnosis of ATTR amyloidosis by 9.5 years [140].
A single publication reported on the temporal association for OA, reporting an average of 7.6 years delay before an ATTR amyloidosis with CM diagnosis was made from OA related surgeries, TKA, and THA [162].
Discussion
Background and rationale
The ability to diagnose ATTR amyloidosis early in the disease course is critical to improving patient prognosis, and MSK manifestations may act as an early indicator of ATTR amyloidosis. This systematic review was conducted to investigate the association between ATTR amyloidosis and MSK manifestations, and to investigate the temporal association between MSK manifestation onset and ATTR amyloidosis diagnosis, in order to potentially aid clinicians in identifying and diagnosing the disease earlier. MSK manifestations, including CTS, SS, OA, among others, were found to be associated with a diagnosis of ATTR amyloidosis (Tables 2, 3, 4, 5, 6 and 7). These manifestations were reported to precede the diagnosis of ATTR amyloidosis by years and could be one of the earliest signs of the disease (Table 8). One of the major systemic manifestations of ATTR amyloidosis is CM which causes progressive heart failure, that can lead to significant morbidity and mortality [3, 10]. The number of patients with ATTRv amyloidosis with cardiomyopathy is estimated to be approximately 40,000 to 50,000 globally [10]. Although the exact prevalence of ATTRwt is not known, it is significantly more common than ATTRv, and CM is the most frequent and predominant systemic involvement in ATTRwt amyloidosis [3, 10]. Awareness of and timely detection of MSK manifestations, months or, even years ahead of the beginning of CM can lead to a significant improvement in the care of these patients [180,181,182].
Limitations
This systematic review is not all-encompassing, and caution should be exercised when drawing conclusions from such a heterogenous evidence base, including many studies reporting on a small number of patients. With the use of machine learning harnessing big data from registries and electronic health records and advanced statistical methodologies, it may be possible to enhance our understanding of the association between MSK manifestations and ATTR amyloidosis. For example, with the application of machine learning, Willis et al. determined which patients with heart failure were ‘at risk’ for developing ATTR amyloidosis; CTS and OA were highlighted as clinical predictive indicators of interest [172]. The potential benefit of utilizing MSK manifestations associated with ATTR amyloidosis to reduce the delay in diagnosis supports further research in the field.
The included publications were highly heterogenous in terms of how the possible association of ATTR amyloidosis with MSK manifestations was demonstrated (Tables 2, 3, 4, 5, 6 and 7). Biopsy followed by tissue staining of MSK or other specified tissues [14, 16, 18, 21, 22, 25, 27, 30, 33,34,35,36,37, 44, 51, 61, 63, 66, 68, 74, 75, 81, 91, 92, 94,95,96, 99, 101, 102, 104, 106,107,108,109,110,111,112,113,114,115, 117,118,119, 121, 124,125,126,127,128,129,130,131, 134, 139, 148,149,150, 152,153,154,155,156,157,158,159,160, 171, 173, 175, 177, 183] were common. However, detecting amyloid in MSK tissues alone does not necessarily mean a patient is or will be diagnosed with ATTR amyloidosis. Tc-99 m PYP/DPD scintigraphy [19, 20, 24, 29, 37, 39, 41, 42, 45, 51, 58, 60, 63, 64, 66, 68, 69, 73, 77, 78, 80, 95, 96, 109, 110, 118, 120, 122, 132, 137,138,139, 148, 152, 165, 166], a non-invasive diagnostic method which has been more commonly used during last several years to make a diagnosis of cardiac amyloidosis [3], was also used to confirm the disease in 30% of the publications included in this review (Table 2). Additionally, methods such as mass spectrometry were utilized to confirm that amyloid was caused by TTR [14, 16, 18, 108, 112, 114, 115, 131, 149, 152, 165]. Another significant limitation is that, although an association between MSK manifestations and ATTR amyloidosis is shown in the literature, it does not necessarily demonstrate causation in all cases. Some MSK manifestations seen in patients with (or who will be diagnosed in the future with) ATTR amyloidosis may not be caused by early amyloid deposition. It will be necessary for clinicians and future researchers to take these limitations into account.
What evidence supports the association between ATTR amyloidosis and MSK manifestations?
The current evidence supports that many MSK manifestations are associated with a diagnosis of ATTR amyloidosis. The MSK manifestation most commonly associated with ATTR amyloidosis is CTS; however, SS, OA, BTR, RCI, TF, among others, were also identified. The exact prevalence of CTS in patients with ATTR amyloidosis remains unclear, with both CTS and ATTR amyloidosis prevalence estimates reported bi-directionally having a broad range. Similarly, no clear trend was identified regarding whether the association with CTS is stronger (indicated by a higher prevalence) in patients with ATTRv or ATTRwt amyloidosis. Nonetheless, given the extent of the identified literature reporting a possible association between CTS and ATTR amyloidosis, patients with CTS may represent a population where targeted screening for ATTR amyloidosis would be valuable [184].
SS was also often associated with ATTR amyloidosis, with similar prevalence estimates identified in patients with ATTRv and ATTRwt amyloidoses. Notably, where the prevalence of CTS and SS was explored in the same patient cohorts with ATTRv or ATTRwt amyloidosis, CTS was more prevalent than SS in all reports [134,135,136, 139, 143, 147].
Finally, the identified evidence supports that ATTR amyloidosis may be prevalent in patients who previously underwent surgery (THA and/or TKA) for OA. TTR amyloid has been detected in the tissues from the joints of patients with OA, which may or may not be indicative of a diagnosis of ATTR amyloidosis, which was confirmed only in three publications. An interesting case series by Akasaki et al., found that all 12 OA patients who donated their knee articular cartilage for biopsy at autopsy had amyloid deposits in their tissue samples [153,154,155]. Although further research is needed, the findings of this publication suggest that there may be value for surgeons to consider biopsy and staining with Congo red in patients who undergo knee or hip surgery for OA.
What is the temporal association between MSK manifestation symptom onset and ATTR amyloidosis diagnosis?
The current evidence highlights that CTS and SS symptom onset can occur months to years, or even decades, before the diagnosis of ATTR amyloidosis [21, 23, 44, 47, 49, 57, 96, 105, 109, 134, 140, 162, 178].
The exact length of time that MSK manifestations precede a diagnosis of ATTR amyloidosis is unclear, with great variation reported across publications. However, the current evidence offers insight into how the temporal association between CTS symptom onset and a diagnosis of ATTR amyloidosis might differ between patients with ATTRv and ATTRwt amyloidosis. According to the current review, CTS symptom onset appears to precede a diagnosis of ATTRv amyloidosis by a substantially longer period than a diagnosis of ATTRwt amyloidosis [21, 44, 47, 49, 96, 134].
Care needs to be taken in the interpretation of the results from these studies given the variation in methodology. For example, at the time of MSK surgery, TTR amyloid deposition may not have occurred within the tissue taken for biopsy, which may confound clinical diagnosis in these patients [153, 160, 175]. Currently, there is no clear order to ATTR amyloid deposition within MSK tissues, i.e., no specific tissue has been identified as the ‘gold standard’ for early detection of ATTR amyloidosis, and biopsy results can vary according to tissue type [153, 160, 175].
Conclusion
Increased awareness of the MSK manifestations associated with ATTR amyloidosis can enable earlier diagnosis and improve outcomes, given there are effective treatments for this rapidly progressive and fatal condition. Surgeons can play a critical role in early diagnosis of ATTR amyloidosis by recognizing associated MSK manifestations. Currently available data, summarized in this first systematic review conducted on the association between MSK manifestations and ATTR amyloidosis, demonstrates that MSK manifestations can be one of the earliest signs of ATTR amyloidosis; however, it should be kept in mind that the available data is heterogenous, and the extent of the causal relationship between MSK manifestations and ATTR amyloidosis should be further investigated.
Availability of data and materials
All data from the review are available within the references included in this manuscript. Only peer-reviewed data reported in published articles, and data presented at congresses and subsequently published as abstracts were used.
References
Zhang D, Makhni MC, Kang JD, Blazar P. Orthopaedic manifestations of amyloidosis. JAAOS-Journal of the American Academy of Orthopaedic Surgeons. 2021;29(10):e488–96.
Muchtar E, Dispenzieri A, Magen H, Grogan M, Mauermann M, McPhail E, Kurtin P, Leung N, Buadi F, Dingli D. Systemic amyloidosis from A (AA) to T (ATTR): a review. J Intern Med. 2021;289(3):268–92.
Nativi-Nicolau J, Siu A, Dispenzieri A, Maurer MS, Rapezzi C, Kristen AV, Garcia-Pavia P, LoRusso S, Waddington-Cruz M, Lairez O. Temporal trends of wild-type transthyretin amyloid cardiomyopathy in the transthyretin amyloidosis outcomes survey. Cardio Oncol. 2021;3(4):537–46.
Cuddy SA, Falk RH. Amyloidosis as a systemic disease in context. Can J Cardiol. 2020;36(3):396–407.
Adams D, Tournev IL, Taylor MS, Coelho T, Planté-Bordeneuve V, Berk JL, González-Duarte A, Gillmore JD, Low S-C, Sekijima Y, et al. Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial. Amyloid. 2023;30(1):1–9.
Adams D, Polydefkis M, González-Duarte A, Wixner J, Kristen AV, Schmidt HH, Berk JL, Losada López IA, Dispenzieri A, Quan D, et al. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. Lancet Neurol. 2021;20(1):49–59.
Rintell D, Heath D, Braga Mendendez F, Cross E, Cross T, Knobel V, Gagnon B, Turtle C, Cohen A, Kalmykov E. Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups. Orphanet J Rare Dis. 2021;16(1):1–13.
Adams D, Gonzalez-Duarte A, O’Riordan WD, Yang C-C, Ueda M, Kristen AV, Tournev I, Schmidt HH, Coelho T, Berk JL, et al. Patisiran, an RNAi therapeutic, for Hereditary Transthyretin Amyloidosis. N Engl J Med. 2018;379(1):11–21.
Ueda M, Ando Y. Recent advances in transthyretin amyloidosis therapy. Translational Neurodegeneration. 2014;3(1):19.
Maurer MS, Bokhari S, Damy T, Dorbala S, Drachman BM, Fontana M, Grogan M, Kristen AV, Lousada I, Nativi-Nicolau J. Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis. Circulation: Heart Failure. 2019;12(9):e006075.
Nativi-Nicolau JN, Karam C, Khella S, Maurer MS. Screening for ATTR amyloidosis in the clinic: overlapping disorders, misdiagnosis, and multiorgan awareness. Heart Fail Rev. 2022;27(3):785–93.
Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, Shamseer L, Tetzlaff JM, Akl EA, Brennan SE. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. Syst Reviews. 2021;10(1):1–11.
Agha RA, Borrelli MR, Farwana R, Koshy K, Fowler AJ, Orgill DP, Zhu H, Alsawadi A, Noureldin A, Rao A. The SCARE 2018 statement: updating consensus Surgical CAse REport (SCARE) guidelines. Int J Surg. 2018;60:132–6.
Abe RK, Takahashi N, Takasone Y, Yoshinaga K, Yazaki T, Kametani M, Sekijima F. Distribution of amyloidosis subtypes based on tissue biopsy site - consecutive analysis of 729 patients at a single amyloidosis center in Japan. Pathol Int. 2021;71(1):70–9.
Akinboboye OA, Malik K, Warner A, Karsten A, Damy V, Taylor T, Maurer HA. M. S.: DISCOVERY: A study examining the prevalence of transthyretin mutations in subjects suspected of having cardiac amyloidosis. Orphanet J Rare Dis. 2015;10(Suppl 1):O8.
Ando YY, Misumi T, Nomura Y, Sasada T, Okada K, Inoue M, Masuda Y, Ueda T, Takamatsu A, Obayashi K, Matsui K, Naiki H, Ueda H. Clinical, pathological, and proteomic characteristics of newly diagnosed amyloidosis patients: experience from a single referral center in Japan. Neurol Clin Neurosci. 2021;9(1):37–44
Arevalo. Carpal tunnel syndrome related to cardiac amyloidosis. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain 2020 529.
Bishop EB, Fajardo EE, Barouch J, Judge LA, Halushka DP. Seven factors predict a delayed diagnosis of cardiac amyloidosis. Amyloid. 2018;25(3):174–9.
Bukhari SB, Nieves A, Eisele R, Follansbee Y, Soman WP. Clinical Predictors of positive 99mTc-99m pyrophosphate scan in patients hospitalized for decompensated heart failure. J Nucl Med. 2020;61(Supplement 1):659.
Bukhari SF, Brownell S, Eisele A, Soman YS. Race-specific phenotypic and genotypic comparison of patients with Transthyretin Cardiac Amyloidosis. J Am Coll Cardiol. 2021;77(18 Supplement 1):675.
Cappellari MF, Taioli M, Cavallaro F, Ferrari T, Rizzuto S, Fabrizi NGM. Diagnostic pitfalls in transthyretin-related familial amyloid polyneuropathies (TTR-FAPS). J Peripheral Nerv Syst. 2009;14(S1):S27-8.
Cappellari MC, Ferrarini T, Cabrini M, Taioli I, Ferrari F, Merlini S, Obici G, Briani L, Fabrizi C. Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. J Peripheral Nerv Syst. 2011;16(2):119–29.
Cappelli FZ, Fumagalli M, Nardi C, Del Monaco G, Matucci Cerinic G, Allinovi M, Taborchi M, Martone G, Gabriele R, Ungar M, Moggi Pignone A, Marchionni A, Di Mario N, Olivotto C, Perfetto I. Tenosynovial complications identify TTR cardiac amyloidosis among patients with hypertrophic cardiomyopathy phenotype. J Intern Med. 2021;289(6):831–9.
Cerudelli EA, Gazzilli D, Bonacina M, Durmo M, Dondi R, Mazzoletti F, Bertagna A, Giubbini F. Transthyretin cardiac amyloidosis and aortic stenosis: in which patients we have to suspect a coexistence. Clin Translational Imaging. 2019;7(Supplement 1):100–S101.
Chen ZK, Saini JS, Tay M, Jayne Tan KSS, Chai Y, Fam JYH, Juraidah SR, Lim AR, Ng PK, Prasad ASL, Tan K, Umapathi CB, Verma T, Yong KK, Yu MH, Ng C. Hereditary Transthyretin Amyloidosis- Clinical and genetic characteristics of a Multiracial South-East Asian Cohort in Singapore. J Neuromuscul Dis. 2021;8(4):723–33.
Choi. “The giant awakes” – rapid increases in the diagnosis of transthyretin (ttr) amyloidosis after the attr-act trial of tafamidis. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain. 2020;29(Supplement 2):S115 529.
Cipriani AC, Civera M, De Michieli S, Cecchin L, Pilichou D, Babuin K, Marra L, Iliceto MP, Briani S, Calore C. Diagnostic approach to wild-type transthyretin cardiac amyloidosis. A single-centre experience. Eur Heart J Supplement. 2019;21(SUPPL J):J178–9.
Cortese AO, Palladini L, Milani G, Sforzini P, Perlini C, Verga S, Lavatelli L, Casarini F, Merlini SG. Clinical and demographic aspects of ATTR amyloidosis: genetic heterogeneity, prognostic markers and novel therapeutic approaches. J Peripheral Nerv Syst. 2009;14(S1):S27–8.
Minutoli FG, Di Bella M, Crisafulli G, Mure C, Militano G, Brancati V, Di Leo M, Mazzeo R, Baldari AS. Cardiac involvement in transthyretin familial amyloid polyneuropathy - comparison between 99mTc-DPD SPECT and magnetic resonance imaging. Eur J Nucl Med Mol Imaging. 2010;37(S2):S382–3.
Du KL, Wang F, Miao H, Lv Y, Zhang H, Wang W, Yuan Z, Meng Y. Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study. Ann. 2021;8(4):831–41.
Durmus HM, Atmaca Z, Poda MM, Oflazer-Serdarotlu M, Deymeer P, Parman FY. Genotypic and phenotypic presentation of TTR-FAP in Turkey. J Neurol. 2015;84(14 Supplement):P2.034.
Durmus HC, Demirci A, Alaylioglu H, Gezen-Ak M, Dursun D, Gulsen Parman E. An exploratory study of cognitive involvement in Hereditary Transthyretin Amyloidosis. Acta Neurol Scand. 2021;144(6):640–6.
Erdogan CB, Uluc AO, Karli K, Koc N, Ozturk F, Sengun S, Secil IS, Tutuncu Y, Akalin M, Uysal MA, Ozdamar H, Parman SE. Y. Transthyretin familial amyloid polyneuropathy (TTR-FAP): A database analysis. Neurology Conference: 72nd Annual Meeting of the American Academy of Neurology, AAN. 2020;94(15 Supplement):3987.
Eriksson MB, Todorov J, Yumlu T, Schonland S, Hegenbart S, Kristen U, Dengler AV, Lohse T, Helmke P, Schmidt B, Rocken H. Prevalence of germline mutations in the TTR gene in a consecutive series of surgical pathology specimens with ATTR ayloid. Am J Surg Pathol. 2009;33(1):58–65.
Gabrovsek AD, Estep JP, Perez J, Tang A, Hanna WHW. Transthyretin Cardiac Amyloidosis in the Black Population: a ten-year experience. J Card Fail. 2019;25(8 Supplement):6.
Gagliardi CP, Lorenzini F, Ferlini M, Salvi A, Milandri F, Quarta A, Taborchi CC, Bartolini G, Frusconi S, Martone S, Cinelli R, Foffi MM, Reggiani S, Fabbri MLB, Cataldo G, Cappelli P, Rapezzi F. Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure. Eur J Heart Fail. 2018;20(10):1417–25.
Galat AG, Bodez A, Slama D, Dijos M, Zeitoun M, Milleron DM, Attias O, Dubois-Rande D, Mohty JL, Audureau D, Teiger E, Rosso E, Monin J, Damy JL. Aortic stenosis and transthyretin cardiac amyloidosis: the chicken or the egg? Eur Heart J. 2016;37(47):3525–31.
Gawor MF, Sioma M, Mazurkiewicz A, Lipowska L, Ojrzynska M, Szczygiel N, Spiewak J, Marczak M, Bilinska M, Grzybowski Z. Genetic diagnosis in transthyretin cardiac amyloidosis - A single centre experience. Kardiologia Polska. 2018;76(Supplement 1):28–9.
Gawor MS, Marczak A, Teresinska M, Grzybowski A. It is not so rare to have a rare disease: single centre experience with wild type transthyretin amyloid cardiomyopathy. Kardiologia Polska. 2019;77(Supplement 1):139–40.
Gawor. Rare transthyretin gene mutations: phe33leu, glu89lys and ala81val in patients with cardiac transthyretin amyloidosis- single centre experience. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain; 2020. p. PM091.
Gentile LDB, Minutoli G, Cucinotta F, Obici F, Mussinelli L, Arimatea R, Russo I, Toscano M, Vita A, Mazzeo G. Description of a large cohort of caucasian patients with V122I ATTRv amyloidosis: neurological and cardiological features. J Peripheral Nerv Syst. 2020;25(3):273–8.
Goena CA, Villanueva X, Solla I, Rengel I, Querejeta A. Are there predictor variables for the diagnosis of transthyretin cardiac amyloidosis? Eur Heart J. 2021;42(SUPPL 1):859.
Gospodinova MS, Guergueltcheva S, Kirov V, Chamova A, Todorova T, Tournev A, Denchev IS. Cardiomyopathy and peripheral polyneuropathy severity in patients with Glu89Gln mutation at the time of diagnosis. Conference: 1st European Congresson Hereditary ATTR Amyloidosis. Paris France. Orphanet J Rare Dis. 2015;10(Supplement 1):59.
Hewitt KM, Giblin M, Murphy G, Joyce L. The clinical spectrum of T60a variant Hereditary Transthyretin Amyloidosis in Ireland. J Card Fail. 2020;26(10 Supplement):33.
Hussain Y. Variable presentation of Hereditary transthyretin-mediated amyloidosis at a single Center. J Clin Neuromuscul Dis. 2021;23(1):7–17.
Jercan AE, Jurcut A, Draghici R, Badelita M, Dragomir S, Dobrea M, Popescu C, Jardan M, Stoica D, Iacob E, Codita S, Stan I, Coriu C. Clinical characteristics in patients with hereditary amyloidosis with Glu54Gln transthyretin identified in the romanian population. Orphanet J Rare Dis. 2020;15(1):34.
Kaku. Neurological manifestations in patients with hereditary transthyretin amyloidosis: a major multidisciplinary center experience. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain; 2020. p. PM093.
Kalinoski-Dubose VL, Efebera S, Parikh Y, Almaani S, Sharma S, Redder N, Freimer E, Bumma M, Kahwash N, Vallakati R, Campbell AC. Phenotypically Sex Differences in Transthyretin Amyloidosis V122I Mutation Patients. Circulation Conference: American Heart Association Scientific Sessions, AHA. 2020;142(SUPPL 3):A17058-A17058.
Karam CD, Christ D, Heitner M. Carpal tunnel syndrome and associated symptoms as first manifestation of hATTR amyloidosis. Neurol. 2019;9(4):309–13.
Keller AS, Delgado K, Vallakati D, Akinboboye A, Towne O, Olugemo M, Narayana K. Clinical characteristics of patients with hereditary transthyretin mutations primarily associated with cardiomyopathy and other rare transthyretin mutations: insights from a genetic testing programme. Eur Heart J. 2021;42(SUPPL 1):1808.
Kessler ASY, Pollock A, Guthrie M, McCausland S. Characterizing the journey to diagnosis for patients with Transthyretin Amyloidosis and Accompanying Congestive Heart failure. J Card Fail. 2019;25(8 Supplement):60.
Khella SS, Delgado K, Marti D, Keller C, Jefferies A, Towne J, Gabriel M, Narayana A, Olugemo A. Clinical characteristics of patients with transthyretin gene mutations and polyneuropathy manifestations of hereditary transthyretin amyloidosis. J Peripheral Nerv Syst. 2021;26(3):390–1.
Khella SD, Towne U, Narayana M, Olugemo A. Hereditary transthyretin amyloidosis and other neuromuscular diseases. Eur J Neurol. 2021;28(SUPPL 1):805.
Khella SD, Gertz D, Towne M, Narayana M, Olugemo A. Characteristics of patients with p.V50M and p.T80A mutations associated with hereditary transthyretin amyloidosis. Eur J Neurol. 2021;28(SUPPL 1):422.
Keller AS, Delgado KB, Vallakati D, Akinboboye A, Marti O, Dolinsky C, Gabriel J, Narayana A, Olugemo A. Genotypic and phenotypic differences and similarities among patients with Transthyretin Amyloidosis or other inherited Cardiovascular Diseases: insights from a genetic testing program. J Am Coll Cardiol. 2021;77(18 Supplement 1):888.
Kristen AVH, Schnabel S, Rocken P, Hardt C, Altland S, Katus K, Dengler HA. TJ. Scintigraphic heart retention and annular plane systolic excursion predict outcome in patients with senile systemic amyloidosis. J Heart Lung Transplant. 2010;29(2 Supplement):S24.
Kristen AVB, Aus Dem Siepen R, Hein F, Aurich S, Riffel M, Katus J, Buss HA. Risk stratification in wild-type transthyretin amyloidosis. J Am Coll Cardiol. 2016;1:1543.
La Malfa GM, Rizzola A, Vianello G, Tini PF, Porto G, Brunelli I, Sambuceti C, Capitanio G, Canepa S. Wrist tracer uptake in transthyretin amyloidosis cardiomyopathy patients diagnosed using bone scintigraphy. G Ital Cardiol. 2019;20(12 Supplement 1):133S.
Longhi SQ, Gagliardi CC, Milandri C, Gentile A, Manuzzi N, Lorenzini L, Bartolomei M, Salvi I, Rapezzi F. Carpal tunnel syndrome in amyloidosis: prevalence, risk factors and correlation with cardiac involvement in a large cohort of 435 consecutive patients. Eur Heart J. 2014;1:1085.
Longhi SM, Gagliardi A, Lorenzini C, Saia M, Leone F, Guidalotti O, Rapezzi PLC. Coexistence of degenerative aortic stenosis and wild type transthyretin-related cardiac amyloidosis: A potentially dangerous association that can be non-invasively identified. Orphanet J Rare Dis. 2015;10(Suppl 1):P45.
Luigetti MC, Del Grande A, Bisogni A, Romano G, Marcaccio A, Lo Monaco A, Laurenti M, Obici L, Merlini L, Sabatelli GM. Ttr-related amyloid neuropathy: cliniclectrophysiological and pathological findings in fifteen unrelated patients. J Peripheral Nerv Syst. 2012;1:S33-4.
Malladi RT, Winder R, Dinh T, Melanson Q, Agarwal M. Alnylam Act: Heterogenous Disease Manifestations of Hereditary transthyretin-mediated amyloidosis. J Card Fail. 2019;25(8 Supplement):111–S112.
Martone RB, De Los Santos J, Gagliardi J, Caponetti C, Perfetto G, Di Mario F, Marcucci C, Rapezzi R, Maurer C, Cappelli MF. Effect of ethnic background on phenotype at presentation in V122i-related hereditary cardiac amyloidosis. Eur Heart J Supplement. 2019;21(SUPPL J):J183.
Merli EG, Antonopoulos I, Pontone A, Cicchitelli G, Amadei G, Fabbri G, Del Giudice E. Myocardial distribution of 99mTc-HMDP and regional longitudinal strain in aTTR amyloidosis cardiomyopathy. Eur Heart J Cardiovasc Imaging. 2019;20(Supplement 1):i529.
Milandri AG, Mazzeo M, Alfonzo A, Stancanelli A, Vita C, Rapezzi G, Tournev C. Transthyretin-related amyloidosis in the mediterranean and balkan area: focus on the GLU89GLN mutation. J Peripheral Nerv Syst. 2016;21(3):281.
Nakagawa MS, Yazaki Y, Tojo M, Yoshinaga K, Doden T, Koyama T, Yanagisawa J, Ikeda S. Carpal tunnel syndrome: a common initial symptom of systemic wild-type ATTR (ATTRwt) amyloidosis. Amyloid. 2016;23(1):58–63.
Ng. The clinical course of transthyretin familial amyloid polyneuropathy with p.ala117ser mutation. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain; 2020 p. PM123.
Oike FU, Yamamoto H, Yamada E, Egashira T, Morioka K, Nishi M, Komorita M, Hirakawa T, Tabata K, Yamanaga N, Fujisue K, Hanatani K, Sueta S, Arima D, Araki Y, Takashio S, Oda S, Misumi S, Kawano Y, Matsushita H, Ueda K, Matsui M, Tsujita H. Prognostic value of left atrial strain in patients with wild-type transthyretin amyloid cardiomyopathy. ESC Heart Fail. 2021;28:28.
Papoutsidakis NJ, Rodonski D, Miller A. How soon is now? Delay in the utilization of technetium-99m pyrophosphate scintigraphy for the diagnosis of cardiac transthyretin amyloidosis in patients with symptoms. J Nuclear Cardiol. 2017;24(4):1485.
Pastorelli FP, Rapezzi R, Milletti C, Salvi DF. Neurophysiological assessment of senile systemic amyloidosis. J Peripheral Nerv Syst. 2016;21(S1):S23.
Patel KS, Nitsche P, Williams C, Tillin S, Captur T, Chako G, Newton L, Kennon J, Menezes S, Pugliese L, Fontana F, Treibel M, Mascherbauer TA, Moon J. AS-amyloidosis. Dual pathology or novel disease? A multimodality, multi-centre assessment across health and disease. Eur Heart J Cardiovasc Imaging. 2021;22(SUPPL 1):i459–60.
Peltier AH, Wigger R, Punnoose M, Slosky L. Spectrum of polyneuropathy observed in V122I inherited transthyretin amyloidosis patients. J Peripheral Nerv Syst. 2020;25(4):503–4.
Peltier AD, Ilieva U. Polyneuropathy characteristics in hATTR V122I patients: a multicenter perspective. J Peripheral Nerv Syst. 2021;26(3):345.
Pinney JHL, Gillmore HJ, Wechalekar JD, Gibbs A, Sattianayagam SDJ, Banypersad P, Dungu SM, Wassef J, McCarthy N, Hawkins CA, Whelan PNCJ. Senile systemic amyloidosis: A common cause of heart failure in the elderly? Heart. 2011;97:A59–60.
Plante-Bordeneuve VG, Hebrard F, Damy B, Ayache T, Nordine S, Lefaucheur TJP. Understand the disease emergence in hereditary transthyretin amyloidosis (hATTR): A longitudinal study of asymptomatic carriers to inaugural disease manifestations. Neurology. 2019;92(15 Supplement):P1.9-035.
Quarta CL, Cappelli S, Perfetti F, Ferlini F, Perlini A, Cinelli S, Gentile MM, Merlini N, Rapezzi G. Late onset cardiomyopathy due to transthyretin Ile68Leu mutation: a cardiogenic variant of familial amyloidosis potentially mimicking sarcomeric hypertrophic cardiomyopathy. Eur Heart J. 2013;1:528.
Quarta CCT, Gonzalez-Lopez AL, Lane E, Maurer T, Whelan M, Kristen CJ, Falk A, Damy RH, Garcia-Pavia T, Merlini P, Rapezzi G, Gillmore C, Hawkins JDPN. Characterization of wild-type transthyretin amyloidosis among women: Preliminary results from an international multicenter study. Orphanet J Rare Dis. 2017;12(Suppl 1):165.
Rocio Ruiz Hueso RBC, Calvo Moron I, Bermudo Guitarte C, Aramburu Bodas C, Carmona Nimo O, Rico Corral E, Salamanca Bautista MA. Prevalence of cardiac amyloidosis in internal medicine patients with heart failure. Eur J Heart Fail. 2021;23(SUPPL 2):320.
Russo MS, Fabrizi C, Ferrarini GM, Gentile M, Vita L, Toscano G, Mazzeo AA. The transthyretin amyloidoses outcome survey (THAOS): record of patients from our site. J Peripheral Nerv Syst. 2011;3:S121.
Russo MM, Stancanelli A, Di Leo C, Gentile R, Di Bella L, Minutoli G, Baldari F, Vita S. Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset. J Peripheral Nerv Syst. 2012;17(4):385–90.
Russo MM, Obici G, Pacciolla L, Fabrizi P, Cavallaro G, Sabatelli T, Luigetti M, Bisogni M, Pareyson G, Fenu D, Calabrese S, Rapezzi D, Bartolomei C, Grandis I, Gemelli M, Mauro C, Pradotto A, Santoro L, Manganelli L, Antonini F, Leonardi G, Vanoli L, My F, Gentile F, Stancanelli L, Mazzeo C, Vita A. Hattr Italian registry: preliminary data from the collaborative network of telethon gup 15010 study. J Peripheral Nerv Syst. 2019;24(Supplement 1):38–S39.
Salvalaggio AC, Cacciavillani D, Obici M, Mazzeo L, Luigetti A, Pastorelli M, Grandis F, Cavallaro M, Bisogni T, Lozza G, Gemelli A, Gentile C, Ermani L, Fabrizi M, Plasmati GM, Campagnolo R, Castellani M, Gasparotti F, Martinoli R, Padua C, Briani L. Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers. J Neurol. 2021;268(1):189–98.
Salvi FP, Plasmati F, Bartolomei R, Dall’Osso I, Rapezzi D. Genotypic and phenotypic correlation in an italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis. Amyloid. 2012;19(Suppl 1):58–60.
Saturi GG, Caponetti C, Longhi A, Milandri S, Fabbri A, Ponziani G, Massa A, Sguazzotti P, Salvi M, Rapezzi FC. Role of gender in transthyretin-related amyloidosis: data from the thaos registry. Eur Heart J Supplement. 2020;22(SUPPL G):G18.
Shah KBB, Gabriel N, Stevenson A, Cannon M, Khella C. Genetic testing for Hereditary Attr Amyloidosis: insights from the Hattr Compass Program. J Am Coll Cardiol. 2020;75(11):744.
Shah KK, Delgado S, Keller D, Jefferies A, Towne J, Narayana M, Olugemo A. Symptom burden and clinical characteristics of patients with mutations associated with hereditary transthyretin amyloidosis: insights from referrals by cardiologists to a genetic testing programme. Eur J Heart Fail. 2021;23(SUPPL 2):245.
Shah KBB, Delgado N, Keller D, Khella A, Gabriel S, Narayana A, Olugemo A. Characteristics of patients with P.V142i mutations Associated with Hereditary Transthyretin Amyloidosis: insights from a genetic testing program. J Am Coll Cardiol. 2021;77(18 Supplement 1):742.
Silva-Hernandez LHH, Valls Carbo A, Guerrero Sola A, Montalvo-Moraleda A, Galan Davila MT. Red flags in patients with hereditary transthyretin amyloidosis at diagnosis in a non-endemic area of Spain. Neurologia (Engl Ed). 2020;04:04.
Slama MC, Algalarrondo P, Lairez V, Pelcot O, Durand-Zaleski F, Lilliu I, Bartoli H, Famelart M, Fievez V, Geffroy S, de Neuville C, Rault B, Bourel C, Damy G. PCV5 clinical characteristics of patients with transthyretin amyloid cardiomyopathy (ATTR-CM) in France: EPACT, a study based on the French Nationwide Claims Database Snds. Value in Health. 2020;23(Supplement 2):486–S487.
Soper ERS, Braganza SA, Kontorovich GT, Kenny AR, Abul-Husn EE. Genomic screening identifies individuals at high risk for Hereditary Transthyretin Amyloidosis. J Personalized Med. 2021;11(1):15.
Mariana Sousa Paiva MSPBR, Christopher Strong BLR, Pedro Lopes CS, Goncalo Cunha PL, Catarina Brizido GC, Sergio Maltes CB, Carlos Aguiar SM, Miguel Mendes CA. Tracking Transthyretin Cardiac Amyloidosis: steps towards a tailored approach. Eur J Heart Fail. 2021;23(SUPPL 2):17–8.
Svendsen IHS-H, Nordvag F. A clinical, echocardiographic and genetic characterization of a danish kindred with familial amyloid transthyretin methionine 111 linked cardiomyopathy. Eur Heart J. 1998;19(5):782–9.
Tzagournissakis MS, Amoiridis C, Plaitakis G, Mitsias AP. Familial amyloidotic polyneuropathy in Crete, Greece. Neurology. 2016;86(16 Supplement):P5.106.
Tzagournissakis MF, Marinis E, Mathioudakis A, Michaelidou L, Spanaki K, Tsilimbaris C, Plaitakis M, Mitsias A, Zaganas PI. High prevalence of transthyretin-related amyloidosis in Crete, Greece is due to three TTR pathogenic variants with markedly differing phenotypic presentations. Neurology. 2020;94(15 Supplement):3974.
Warner ALH, Fazeli S, Berenji F, Ghaznavi G. Echocardiographic and electrocardiographic predictors of Transthyretin Cardiac Amyloidosis. J Am Coll Cardiol. 2019;73(9 Supplement 1):794.
Yamada TT, Arima S, Nishi Y, Morioka M, Hirakawa M, Hanatani K, Fujisue S, Yamanaga K, Kanazawa K, Sueta H, Araki D, Usuku S, Nakamura H, Suzuki T, Yamamoto S, Ueda E, Kaikita M, Tsujita K. Clinical characteristics and natural history of wild-type transthyretin amyloid cardiomyopathy in Japan. ESC Heart Fail. 2020;7(5):2829–37.
Yamashita TU, Nomura M, Okada T. N.: Amyloidosis typing at amyloidosis medical practice center in Kumamoto University hospital. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain; 2020. p. PM069
Zadok. Prior carpal tunnel syndrome and early concomitant echocardiographic findings among patients with systemic amyloidosis. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain; 2020. p. PT075.
Zampino SS, Vaishnav F, Judge J, Ebenezer D, Polydefkis G. Distinct clinical profiles among ATTRv genotypes. J Peripheral Nerv Syst. 2021;26(3):404.
Zivkovic et al. Electrodiagnostic and clinical features of neuropathy in patients with wtATTR. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain; 2020. p. PW081.
Backer HCG, Lentzsch SE, Freibott S, Shoap CE, Strauch S, Rosenwasser RJ. Flexor tenosynovectomy in carpal tunnel syndrome as a screening tool for early diagnosis of amyloidosis. Ir J Med Sci. 2021;28:28.
Bastkjær et al. The frequency of localised and systemic amyloidosis in patients receiving carpal tunnel release. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain; 2020. p. PM056.
Breda SR, Schachenmayr HP. [Incidence of biopsy-detectable amyloid deposits in the retinaculum flexorum and in the tenosynovial tissue in carpal tunnel syndrome]. Zentralbl Neurochir. 1993;54(2):72–6.
Fernandez Fuertes JRV, Sanchez Herraez O, Ramos Pascua S. Early diagnosis of systemic amyloidosis by means of a transverse carpal ligament biopsy carried out during carpal tunnel syndrome surgery. Med Clin (Barc). 2017;148(5):211–4.
Fosbol ELR, Leicht R, Schou BP, Maurer M, Kristensen MS, Kober SL, Gustafsson L. Association of carpal tunnel syndrome with amyloidosis, heart failure, and adverse Cardiovascular Outcomes. J Am Coll Cardiol. 2019;74(1):15–23.
Gioeva ZU, Meliss P, Haag RR, Axmann J, Siebert HD, Becker F, Radtke K, Rocken HG. ATTR amyloid in the carpal tunnel ligament is frequently of wildtype transthyretin origin. Amyloid. 2013;20(1):1–6.
Hahn KU, Melis P, Axmann RR, Siebert HD, Rocken F. [Carpal tunnel syndrome and ATTR-amyloidosis]. Handchir Mikrochir Plast Chir. 2018;50(5):329–34.
Hansen FGB, Nielsen R, Petersen SK, Moeller AS, Jensen HEH, Tromborg KP, Kejlaa H, Beck G, Rojek HC, Hansen AS, Marcussen CT, Overgaard N, Abildgaard S, Mogensen N. The frequency of cardiac amyloidosis in 182 patients receiving carpal tunnel release surgery. Eur Heart J. 2020;41(SUPPL 2):2126.
Itzhaki Ben Zadok OA, Vaxman A, Eisen I, Iakobishvili A, Sagie Z, Kornowski A, Vaturi R. Prior carpal tunnel syndrome and early concomitant echocardiographic findings among patients with Cardiac Amyloidosis. J Card Fail. 2020;26(11):909–16.
Milandri AF, Gagliardi A, Longhi C, Salvi S, Curti F, Foffi S, Caponetti S, Lorenzini AG, Ferlini M, Rimessi A, Mattioli P, Violante S, Rapezzi FS. Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies. Eur J Heart Fail. 2020;22(3):507–15.
Nakamichi KIT. Amyloid deposition in the synovium and ligament in idiopathic carpal tunnel syndrome. Muscle Nerve. 1996;19(10):1349–51.
Reyes BAI, Sperry A, Shapiro B, Hanna DB, Seitz M. Carpal tunnel syndrome and amyloid cardiomyopathy. J Hand Surg. 2017;42(9 Supplement 1):31–S32.
Samoes RT, Valdrez R, Goncalves K, Melo Pires I, Martins da Silva M, Coelho A. Amyloid detection in the transverse carpal ligament of patients with hereditary ATTR V30M amyloidosis and carpal tunnel syndrome. Amyloid. 2017;24(2):73–7.
Scott KLC, Renfree CR. Histopathologic evaluation of Flexor Tenosynovium in recurrent carpal tunnel syndrome. Plast Reconstr Surg. 2019;143(1):169–75.
Sekijima YU, Tojo S, Sano K, Imaeda K, Kato T, Ikeda HS. Prevalence of senile systemic amyloidosis in patients with idiopathic carpal tunnel syndrome. Amyloid. 2010;17(S1):P-141.
Sekijima YU, Tojo S, Sano K, Shimizu K, Imaeda Y, Hoshii T, Kato Y, Ikeda H. High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly. Hum Pathol. 2011;42(11):1785–91.
Stein KS, Linke S, Goebel RP. Chemical heterogeneity of amyloid in the carpal tunnel syndrome. Virchows Arch A Pathol Anat Histopathol. 1987;412(1):37–45.
Sugiura KK, Ueba H, Kubo H, Ochi T, Baba Y, Miyagawa Y, Noguchi K, Hirota T, Yamasaki T, Wada N, Nakashima N, Murakami J, Ikeuchi I, Kitaoka M. Tenosynovial and Cardiac Transthyretin amyloidosis in japanese patients undergoing carpal tunnel release. Circ Rep. 2021;3(6):338–44.
Uchiyama SS, Tojo Y, Sano K, Imaeda K, Moriizumi T, Ikeda T, Kato S. Effect of synovial transthyretin amyloid deposition on preoperative symptoms and postoperative recovery of median nerve function among patients with idiopathic carpal tunnel syndrome. J Orthop Sci. 2014;19(6):913–9.
Vianello PFP, Canepa I, Tini M, La Malfa G. Prevalence of transthyretin amyloid cardiomyopathy in male patients who underwent bilateral carpal tunnel surgery: the actual study. Eur Heart J Supplement. 2020;22(SUPPL N):N130.
Wininger AEP, Le BM, Harris JT, Trachtenberg JD, Liberman BH. Musculoskeletal pathology as an early warning sign of systemic amyloidosis: a systematic review of amyloid deposition and orthopedic surgery. BMC Musculoskelet Disord. 2021;22(1):51.
Zegri-Reiriz IdH-DM FJ, Dominguez F, Salas C, de la Cuadra P, Plaza A, Krsnik I, Gonzalez-Lopez E, Garcia-Pavia P. Prevalence of Cardiac Amyloidosis in patients with carpal tunnel syndrome. J Cardiovasc Transl Res. 2019;12(6):507–13.
Arevalo ABH, Murray F, Contreras S, Luo G, Ali Y. Lumbar spinal stenosis in patients with wild-type transthyretin cardiac amyloidosis. Arthritis and Rheumatology. 2019;71(Supplement 10):3807–8.
Cortese AV, Lozza E, Alfonsi A, Montini E, Moglia A, Merlini A, Obici GL. Diagnostic challenges in transthyretin amyloidosis: avoiding misdiagnosis of a treatable hereditary neuropathy. J Peripheral Nerv Syst. 2016;21(S1):S11-2.
D’Agostino ANM, Quinn MS. Lumbar spinal stenosis and spondylosis associated with amyloid deposition in the ligamentum flavum. Clin Neuropathol. 1992;11(3):147–50.
Eldhagen PB, Lund S, Sorensson LH, Suhr P, Westermark OB. Transthyretin amyloid deposits in lumbar spinal stenosis and assessment of signs of systemic amyloidosis. J Intern Med. 2021;289(6):895–905.
Gagne F. Vertebral ligament amyloid deposits in spinal stenosis. [French]. Can J Neurol Sci. 1995;22(2):164–7.
Gies UL, Schachenmayr RP. Amyloid deposits of immunohistochemically different classes in the ligamentum flavum in biopsies from patients with herniated discs or lumbar spinal stenosis. Clin Neuropathol. 1996;15(1):54–9.
Godara et al. Amyloid in the ligamentum flavum of patients with spinal stenosis and ATTR (wild-type) cardiac involvement. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain; 2020. p. PW089
Westermark PW, Suhr GT, Berg OB. Transthyretin-derived amyloidosis: probably a common cause of lumbar spinal stenosis. Ups J Med Sci. 2014;119(3):223–8.
Yanagisawa AU, Sueyoshi M, Okada T, Fujimoto T, Ogi T, Kitagawa Y, Tasaki K, Misumi M, Oshima Y, Jono T, Obayashi H, Hirakawa K, Uchida K, Westermark H, Ando P, Mizuta Y. Amyloid deposits derived from transthyretin in the ligamentum flavum as related to lumbar spinal canal stenosis. Mod Pathol. 2015;28(2):201–7.
Abboud AC, Nguonly A, Fiseha A, Bean N, Osborne A, Ibrahim MT, McCarthy NE, Tawakol CP, Ruberg A, Sadjadi FL, David R, Lewis WS, Januzzi GD, Gaggin JL. Care Trajectory and early clinical features among patients with 99mtc-Pyrophosphate positive transthyretin amyloid cardiomyopathy (Attr-Cm). J Am Coll Cardiol. 2020;75(11):820.
Arana XG, Villanueva C, Rengel I, Manas A, Rilo L, Solla I, Querejeta I. Transthyretin cardiac amyloidosis: what are the main clinical suspicion data? Eur J Heart Fail. 2021;23(SUPPL 2):250.
Auer-Grumbach MR, Ablasser R, Agis K, Beetz H, Duca C, Gattermeier F, Glaser M, Hacker F, Kain M, Kaufmann R, Kovacs B, Lampl GG, Ljevakovic C, Nagele N, Polzl J, Quasthoff G, Raimann S, Rauschka B, Reiter H, Skrahina C, Schuhfried V, Sunder-Plassmann O, Verheyen R, Wanschitz ND, Weber J, Windhager T, Wurm R, Zimprich R, Loscher F, Bonderman WN. Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots. J. 2020;9(7):14.
Aus dem Siepen FH, Prestel S, Baumgartner S, Schonland C, Hegenbart S, Rocken U, Katus C, Kristen HA. A. V.: Carpal tunnel syndrome and spinal canal stenosis: harbingers of transthyretin amyloid cardiomyopathy? Clin 2019, 108(12):1324–30.
Bhadola SK, Lau MKHV. Neurological manifestations in patients with hereditary transthyretin amyloidosis: A retrospective database study based at a major multidisciplinary amyloidosis center. Neurology. 2020;94(15 Supplement):2888.
Bukhari SM, Shpilsky S, Nieves D, Soman R. Amyloidosis prediction score: a clinical model for diagnosing Transthyretin Cardiac Amyloidosis. J Card Fail. 2020;26(10 Supplement):33.
Bukhari SM, Shpilsky S, Nieves D, Bashir R, Soman Z. Development and validation of a diagnostic model and scoring system for transthyretin cardiac amyloidosis. J Investig Med. 2021;69(5):1071–2.
Campagnolo MC, Cacciavillani C, Berno M, Salvalaggio T, Cipriani A, Castellani A, Briani F. Wild-type transthyretin amyloidosis: Clinical, Neurophysiological and Imaging Profile. J Peripheral Nerv Syst. 2020;25(4):555.
Debonnaire PC, De Smet M, Trenson M, Lycke S, Demeester M, Van Droogenbroeck C, De Vriese J, Verhoeven AS, Vantomme K, Van Meirhaeghe N, Willandt J, Lambert B, de Paepe M, Delanote P, De Geeter J, Tavernier FR. Trends in diagnosis, referral, red flag onset, patient profiles and natural outcome of de novo cardiac amyloidosis and their multidisciplinary implications. Acta Cardiol. 2022;77(9):791–804.
Di Stefano VT, Giustino E, Gagliardo V, Lupica A, Iacono A, Palma S, Battaglia A, Brighina GF. Bioimpedance analysis as a marker for disease progression in hereditary transthyretin amyloidosis with polyneuropathy. J Neurol Sci. 2021;429(Supplement):118376.
Durmus HM, Atmaca Z, Poda MM, Cakar M, Serdaroglu-Oflazer A, Deymeer P, Parman FY. Genotypic and phenotypic presentation of GLU89GLN mutation in Turkey. Orphanet J Rare Dis. 2015;10(Suppl 1):P33.
Durmus HC, Sahin A, Matur E, Poda Z, Altunoglu M, Oflazer-Serdaroglu U, Deymeer P, Parman F. Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey. J Peripheral Nerv Syst. 2017;22(3):276–7.
Huda AS, Castano SJ, Niyogi A, Schumacher A, Stewart J, Deo M. A machine learning model for the systematic identification of wild-type transthyretin cardiomyopathy. J Card Fail. 2019;25(8 Supplement):53–S54.
Lauppe RELH, Gerdeskold J, Rozenbaum C, Strand MH, Vakevainen AM, Kuusisto M, Gude J, Gustafsson E, Smith F. Nationwide prevalence and characteristics of transthyretin amyloid cardiomyopathy in Sweden. Open Heart. 2021;8(2):10.
Martyn TS, Estep J, Collier J, Kwon P, Jaber D, Hanna W, Tang M. The Use of Natural Language Processing Tools and the Integrated Electronic Medical Record (Emr) to identify patients at high-risk for Transthyretin Cardiac Amyloidosis. J Am Coll Cardiol. 2021;77(18 Supplement 1):839.
Russo MO, Bartolomei L, Cappelli I, Luigetti F, Fenu M, Cavallaro S, Chiappini T, Gemelli MG, Pradotto C, Manganelli LG, Leonardi F, My L, Sampaolo F, Briani S, Gentile C, Stancanelli L, Di Buduo C, Pacciolla E, Salvi P, Casagrande F, Bisogni S, Calabrese G, Vanoli D, Di Iorio F, Antonini G, Santoro G, Mauro L, Grandis A, Di Girolamo M, Fabrizi M, Pareyson GM, Sabatelli D, Perfetto M, Rapezzi F, Merlini C, Mazzeo G, Vita A. ATTRv amyloidosis Italian Registry: clinical and epidemiological data. Amyloid. 2020;27(4):259–65.
Russell AH, Chhibber C, Korngut S, Fine L. Utility of Neuropathy Screening for Wild-Type Transthyretin Amyloidosis Patients. Can J Neurol Sci. 2021;48(5):607–15.
George KMD, Nail RS, Yu J, Mastroianni A, Wang M, Arkun AY, Patel K, Kryzanski A, Comenzo J, Riesenburger R. Wild-type Transthyretin Amyloidosis Occurring in the Ligamentum Flavum of the Cervicothoracic spine. World Neurosurg. 2020;142:e325–30.
George KMH, Breton NS, Cooper J, Dowd B, Nail RS, Yu J, Mastroianni A, Wang M, Godara A, Zhang A, Arkun D, Patel K, Varga AR, Soto C, Kryzanski O, Comenzo J, Riesenburger R. Increased thickness of lumbar spine ligamentum flavum in wild-type transthyretin amyloidosis. J Clin Neurosci. 2021;84:33–7.
George KMH, Breton NS, Cooper J, Dowd B, Nail RS, Yu J, Mastroianni A, Wang M, Godara A, Zhang A, Arkun D, Patel K, Varga AR, Soto C, Kryzanski O, Comenzo J, Riesenburger R. Lumbar ligamentum flavum burden: evaluating the role of ATTRwt amyloid deposition in ligamentum flavum thickness at all lumbar levels. Clin Neurol Neurosurg. 2021;206:106708.
Godara AR, Zhang RI, Varga DX, Fogaren C, Siddiqui T, Yu NS, Wang A, Mastroianni A, Dowd M, Nail R, McPhail TJ, Kurtin ED, Theis PJ, Toskic JD, Arkun D, Pilichowska K, Kryzanski M, Patel J, Comenzo ARR. Association between spinal stenosis and wild-type ATTR amyloidosis. Amyloid. 2021;4:1–8.
Akasaki Y, Reixach N, Matsuzaki T, Alvarez-Garcia O, Olmer M, Iwamoto Y, Buxbaum JN, Lotz MK. Transthyretin deposition in articular cartilage: a novel mechanism in the pathogenesis of osteoarthritis. Arthritis & Rheumatology. 2015;67(8):2097–107.
Akasaki YA-G, Reixach O, Buxbaum N, Iwamoto J, Lotz YMK. Transthyretin and amyloid in cartilage aging and osteoarthritis. Arthritis Rheumatol. 2014;(10):S452.
Akasaki YL, Matsuzaki MK, Alvarez-Garcia T, Okazaki O, Nakashima KY. Transthyretin and amyloid deposition in osteoarthritis. J Orthop Res Conf. 2017;35(S1):1538.
Egan MSG, Cohen DL, Segal AS. The association of amyloid deposits and osteoarthritis. Arthritis Rheum. 1982;25(2):204–8.
Gu YJG, Mu P, Lu Y, Zheng JH, Sun F. Clinical and laboratory characteristics of patients having amyloidogenic transthyretin deposition in osteoarthritic knee joints. J Zhejiang Univ Sci B. 2014;15(1):92–9.
Niggemeyer OS, Deuretzbacher J, Zustin G, Ruther J. Amyloid deposition in osteoarthritis of the hip. Arch Orthop Trauma Surg. 2011;131(5):637–43.
Takanashi TM, Yazaki M, Yamazaki M, Nawata H, Katagiri M, Ikeda Y. Synovial deposition of wild-type transthyretin-derived amyloid in knee joint osteoarthritis patients. Amyloid. 2013;20(3):151–5.
Yanagisawa AU, Sueyoshi M, Nakamura T, Tasaki E, Suenaga M, Motokawa G, Toyoshima H, Kinoshita R, Misumi Y, Yamashita Y, Sakaguchi T, Westermark M, Mizuta P, Ando H. Knee osteoarthritis associated with different kinds of amyloid deposits and the impact of aging on type of amyloid. Amyloid. 2016;23(1):26–32.
Paccagnella AB, Mattana R, Mei F, Saturi R, Massa G, Caponetti P, Sguazzotti G, Ponziani M, Gagliardi A, Longhi C, Galie S, Fanti N. Prevalence of transthyretin cardiac amyloidosis (ATTRCA) in a population of patients with hip and knee arthroplasty: could they be early signs? Eur J Nucl Med Mol Imaging. 2020;47(SUPPL 1):528.
Rubin JA, Teruya J, Castano S, Lehman A, Weidenbaum RA, Geller M, Helmke JA, Maurer S. Hip and knee arthroplasty are common among transthyretin cardiac amyloidosis patients and occur 7.6 years before cardiac amyloid diagnosis: can we identify affected patients earlier? J Card Fail. 2017;23(8 Supplement 1):27.
Campbell C et al. Orthopaedics history preceding diagnosis of cardiac amyloidosis: Timing and variation by subtype. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain; 2020. p. PT119.
Geller HIT, Falk DRH. Ruptured biceps tendon: A novel non-cardiac clue to TTR cardiac amyloidosis. Circulation. 2015;132(SUPPL. 3):A12716.
Gorevic PD. Cardiac amyloidosis at Mount Sinai: review of 164 cases with special reference to Associated arthropathy, neuropathy, myopathy and gammopathy. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain; 2020. p. PT135.
Kastritis E, et al. Diagnosis and clinical characteristics of patients with wtATTR cardiomyopathy: a systemic disease beyond the heart. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain; 2020. p. PW092.
Kogan R, et al. Prevalence and clinical significance of orthopedic red flags in cardiac amyloidosis. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain; 2020. p. PT099.
Nativi-Nicolau J et al. Wild-type transthyretin, more than what meets the heart. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain; 2020. p. PW083.
Rapezzi et al. The incidence and temporal relationship of early clinical manifestations and transthyretin amyloid cardiomyopathy in tafamidis clinical trials. In: International Society of Amyloidosis vol. XVII International Symposium on Amyloidosis. Spain; 2020. p. PT086.
Rubin JA, Teruya J, Castano S, Lehman A, RA Weidenbaum, Geller M, Helmke JA, Maurer S. M. S. Hip and knee arthroplasty are common among patients with transthyretin cardiac amyloidosis, occurring years before cardiac amyloid diagnosis: can we identify affected patients earlier? Amyloid. 2017;24(4):226–30.
Sekijima YY, Ueda M, Koike M, Yamada H, Ando M. First nationwide survey on systemic wild-type ATTR amyloidosis in Japan. Amyloid. 2018;25(1):8–10.
Willis CK, Watanabe K, Biskupiak A, Nolen J, Blackner K, Bruno L, Ateya M, Schepart M, Nativi-Nicolau A. Screening of patients at risk for wild type Attr-Cm using a computational machine learning algorithm. J Am Coll Cardiol. 2021;77(18 Supplement 1):677.
Hara YT, Kawano Y, Hoshikawa K, Kita S. The Tenosynovitis of Fingers Associated with Transthyretin Amyloidosis. J Hand Surg Asian Pac Vol. 2020;25(3):340–4.
Sood RFK, McCreary S, Sather E, Schmitt BK, Peterson M, Lipira SL. Diagnosing systemic amyloidosis presenting as carpal tunnel syndrome: a risk nomogram to Guide Biopsy at Time of carpal tunnel release. J Bone Joint Surg Am. 2021;103(14):1284–94.
Sperry BWK, Gabrovsek R, Donnelly A, Kilpatrick JP, Shapiro S, Evans D, Maschke PJ, Cotta S, Nakashima C, Seitz M, Hanna W. Cardiac amyloidosis screening at trigger finger release surgery. Am J Cardiol. 2021;160:96–8.
Sperry BWR, Ikram BA, Donnelly A, Phelan JP, Jaber D, Shapiro WA, Evans D, Maschke PJ, Kilpatrick S, Tan SE, Rodriguez CD, Monteiro ER, Tang C, Kelly WHW, Seitz JW. W. H., Jr. Hanna, M.: Tenosynovial and Cardiac Amyloidosis in Patients Undergoing Carpal Tunnel Release. Journal of the American College of Cardiology 2018, 72(17):2040–2050.
Sueyoshi TU, Jono M, Irie H, Sei H, Ide A, Ando J, Mizuta Y. Wild-type transthyretin-derived amyloidosis in various ligaments and tendons. Hum Pathol. 2011;42(9):1259–64.
Leon Cejas LC, Conti C, Aguirre ME, Rodriguez F, Landricina A, Pedelhez P, Cordoba R, Chaves M, Rugiero M, Marchesoni M, Pardal C, Barroso A, Reisin F. Argentinean study in transthyretin familial amyloid polyneuropathy. An old illness that we need to think. Eur J Neurol. 2020;27(Supplement 1):405.
JBI Manual for Evidence Synthesis. [https://jbi-global-wiki.refined.site/space/MANUAL].
Grogan M, Hawkins PN, Kristen AV, Berk JL, Suhr OB, Lin H, Merkel M, McManus A, Powell C, Vest J, et al. Identifying mixed phenotype: evaluating the Presence of Polyneuropathy in patients with Hereditary transthyretin-mediated amyloidosis with cardiomyopathy. J Card Fail. 2019;25(8):9–S10.
Griffin JM, Rosenthal JL, Grodin JL, Maurer MS, Grogan M, Cheng RK. ATTR Amyloidosis: current and emerging management strategies: JACC: CardioOncology State-of-the-art review. JACC CardioOncol. 2021;3(4):488–505.
Papoutsidakis N, Miller EJ, Rodonski A, Jacoby D. Time Course of Common Clinical Manifestations in patients with Transthyretin Cardiac Amyloidosis: Delay from Symptom Onset to diagnosis. J Card Fail. 2018;24(2):131–3.
Looi LM. Dystrophic amyloidosis: a local complication of tissue damage with heterogeneous distribution. Histopathology. 1991;19(2):169–72.
Westin O, Fosbøl Emil L, Maurer Mathew S, Leicht Birgitte P, Hasbak P, Mylin Anne K, Rørvig S, Lindkær Thomas H, Johannesen Helle H, Gustafsson F. Screening for Cardiac Amyloidosis 5 to 15 years after surgery for bilateral carpal tunnel syndrome. J Am Coll Cardiol. 2022;80(10):967–77.
Acknowledgements
The authors would like to thank and acknowledge Louise Heron, Patrick Lavelle, and Fleur Howells from Adelphi Values PROVE™ for their support in conducting the literature review and drafting content.
Funding
This systematic review was funded by Alnylam Pharmaceuticals.
Author information
Authors and Affiliations
Contributions
Catherine Summers and Emre Aldinc provided conceptualization and review of the protocol, results, and interpretation. Dr Courtney Campbell, Dr Finn Gustafsson, and Dr Dafang Zhang provided expert guidance including conceptualization and review of the protocol, results, and interpretation. Richard Macey, Abigail Beveridge, and Laura Marr conducted the review of the literature, developed the protocol, and drafted the manuscript. All authors were involved in the review process and approval of the manuscript content.
Corresponding author
Ethics declarations
Ethics approval and consent to participate
Not applicable this is a secondary analysis of primary research.
Consent for publication
Not applicable this is a secondary analysis of primary research.
Competing interests
Catherine Summers and Emre Aldinc are employees of Alnylam Pharmaceuticals. Finn Gustafsson is an adviser to Alnylam, Ionis and Pfizer. Courtney Campbell is an adviser to Alnylam and Pfizer and has received research support from Alnylam and Akari Therapeutics. Richard Macey, Abigail Beveridge, and Laura Marr are employees of Adelphi Values PROVE™. Adelphi Values PROVE™ received funding from Alnylam Pharmaceuticals for the conduct of the review, from development of the systematic review methodology through to overseeing the final formatting and manuscript submission processes.
Additional information
Publisher’s Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Supplementary Information
Additional file 1: Supplement 1.
PICOTS criteria for study inclusion and exclusion in the SLR. Supplement 2. Ovid® search strategies for EMBASE and Medline (run on November 3rd, 2021). Supplement 3. Case studies excluded from the systematic literature with ATTR MSK manifestation
Rights and permissions
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
About this article
Cite this article
Aldinc, E., Campbell, C., Gustafsson, F. et al. Musculoskeletal manifestations associated with transthyretin-mediated (ATTR) amyloidosis: a systematic review. BMC Musculoskelet Disord 24, 751 (2023). https://doi.org/10.1186/s12891-023-06853-5
Received:
Accepted:
Published:
DOI: https://doi.org/10.1186/s12891-023-06853-5