European Patient Advocacy Groups (ePAGs) within the Endo-ERN identified a lack of knowledge about quality of care (QoC) of patients with multiple endocrine neoplasia (MEN). The aim of this study was to identify inequalities in care and to encourage improvements.
The European MEN Alliance (EMENA) developed and conducted a survey, using the European Commissions’ EUSurvey platform. Patient groups and healthcare professionals (HCPs) distributed the survey.
A total of 288 participants completed the survey (MEN1 n = 203, MEN2 n = 67, MEN3 n = 18) from 18 European countries. The majority of respondents were recruited via patient groups (58%), aged between 41 and 60 years (53%) and were female (67%). All participants reported having been diagnosed on average 5.58 years (95%-CI: 4.45–6.60) after first symptoms occurred. This timeframe was lower in the group with MEN2 (2.97 years, 95%-CI: 1.37–4.57). Most of the participants (67%) received their diagnosis by a positive gene test after presenting with one or more MEN-related tumours. Overall QoC was rated as either “good” (43%) or “excellent” (36%).
The results of this unique Europe-wide, patient-driven survey on QoC of patients with MEN show that ratings for overall QoC were lower than ratings for different aspects of care. This may be because of the complex nature of care for genetic syndromes. Furthermore, patients who connect with patient groups may be deemed “expert patients” whose answers are not representative of the overall MEN patient community. We hope that Endo-ERN can support further education and training for HCPs based on these results.
This is a preview of subscription content, access via your institution.
We’re sorry, something doesn't seem to be working properly.
Please try refreshing the page. If that doesn't work, please contact support so we can address the problem.
The data that support the findings of this study are available from the corresponding author upon reasonable request.
R.V. Thakker, Multiple endocrine neoplasia-syndromes of the twentieth century. J. Clin. Endocrinol. Metab. 83(8), 2617–2620 (1998)
R.V. Thakker, Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4). Mol. Cell Endocrinol. 386(1–2), 2–15 (2014). https://doi.org/10.1016/j.mce.2013.08.002
M.C. Pacheco, Multiple endocrine neoplasia: a genetically diverse group of familial tumor syndromes. J. Pediatr. Genet. 5(2), 89–97 (2016). https://doi.org/10.1055/s-0036-1579758
G.V. Walls, Multiple endocrine neoplasia (MEN) syndromes. Semin. Pediatr. Surg. 23(2), 96–101 (2014). https://doi.org/10.1053/j.sempedsurg.2014.03.008
J.E. McDonnell, M.L. Gild, R.J. Clifton-Bligh, B.G. Robinson, Multiple endocrine neoplasia: an update. Intern. Med. J. 49(8), 954–961 (2019). https://doi.org/10.1111/imj.14394
F. Marini, A. Falchetti, F. Del Monte, S. Carbonell Sala, A. Gozzini, E. Luzi, M.L. Brandi, Multiple endocrine neoplasia type 1. Orphanet J. Rare Dis. 1, 38 (2006)
F. Marini, A. Falchetti, F. Del Monte, S. Carbonell Sala, I. Tognarini, E. Luzi, M.L. Brandi, Multiple endocrine neoplasia type 2. Orphanet J. Rare Dis. 1, 45 (2006)
A. Falchetti, F. Marini, E. Luzi, F. Giusti, L. Cavalli, T. Cavalli, M.L. Brandi, Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors. Genet. Med. 11(12), 825–835 (2009)
J. Moline, C. Eng, Multiple endocrine neoplasia type 2: an overview. Genet. Med. 13(9), 755–764 (2011). https://doi.org/10.1097/GIM.0b013e318216cc6d
J.T. Pang, R.V. Thakker, Multiple endocrine neoplasia type 1 (MEN1). Eur. J. Cancer 30A(13), 1961–1968 (1994)
A. Calender, P. Goudet, Multiple endocrine neoplasia type 1. MEN1—Wermer syndrome. Ann. Endocrinol. 64(5 Pt 1), 383–388 (2003).
A.F. Scarsbrook, R.V. Thakker, J.A. Wass, F.V. Gleeson, R.R. Phillips, Multiple endocrine neoplasia: spectrum of radiologic appearances and discussion of a multitechnique imaging approach. Radiographics 26(2), 433–451 (2006)
F. Khatami, S.M. Tavangar, Multiple endocrine neoplasia syndromes from genetic and epigenetic perspectives. Biomark. Insights 13, 1177271918785129 (2018). https://doi.org/10.1177/1177271918785129
S.C. Chandrasekharappa, S.C. Guru, P. Manickam, S.E. Olufemi, F.S. Collins, M.R. Emmert-Buck, L.V. Debelenko, Z. Zhuang, I.A. Lubensky, L.A. Liotta, J.S. Crabtree, Y. Wang, B.A. Roe, J. Weisemann, M.S. Boguski, S.K. Agarwal, M.B. Kester, Y.S. Kim, C. Heppner, Q. Dong, A.M. Spiegel, A.L. Burns, S.J. Marx, Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 276(5311), 404–407 (1997). https://doi.org/10.1126/science.276.5311.404
L.M. Mulligan, B.A. Ponder, Genetic basis of endocrine disease: multiple endocrine neoplasia type 2. J. Clin. Endocrinol. Metab. 80(7), 1989–1995 (1995). https://doi.org/10.1210/jcem.80.7.7608246
L. Schaaf, J. Pickel, K. Zinner, U. Hering, M. Hofler, P.E. Goretzki, F. Spelsberg, F. Raue, A. von zur Muhlen, H. Gerl, J. Hensen, D.K. Bartsch, M. Rothmund, U. Schneyer, H. Dralle, M. Engelbach, W. Karges, G.K. Stalla, W. Hoppner, Developing effective screening strategies in multiple endocrine neoplasia type 1 (MEN 1) on the basis of clinical and sequencing data of German patients with MEN 1. Exp. Clin. Endocrinol. Diabetes 115(8), 509–517 (2007)
M.C. Lemos, R.V. Thakker, Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum. Mutat. 29(1), 22–32 (2008)
A. Machens, L. Schaaf, W. Karges, K. Frank-Raue, D.K. Bartsch, M. Rothmund, U. Schneyer, P. Goretzki, F. Raue, H. Dralle, Age-related penetrance of endocrine tumours in multiple endocrine neoplasia type 1 (MEN1): a multicentre study of 258 gene carriers. Clin. Endocrinol. 67(4), 613–622 (2007)
J.M. de Laat, R.B. van der Luijt, C.R. Pieterman, M.P. Oostveen, A.R. Hermus, O.M. Dekkers, W.W. de Herder, A.N. van der Horst-Schrivers, M.L. Drent, P.H. Bisschop, B. Havekes, M.R. Vriens, G.D. Valk, MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients. BMC Med. 14(1), 182 (2016). https://doi.org/10.1186/s12916-016-0708-1
W. Karges, L. Schaaf, H. Dralle, B.O. Boehm, Concepts for screening and diagnostic follow-up in multiple endocrine neoplasia type 1 (MEN1). Exp. Clin. Endocrinol. Diabetes 108(5), 334–340 (2000)
J. Waldmann, V. Fendrich, N. Habbe, D.K. Bartsch, E.P. Slater, P.H. Kann, M. Rothmund, P. Langer, Screening of patients with multiple endocrine neoplasia type 1 (MEN-1): a critical analysis of its value. World J. Surg. 33(6), 1208–1218 (2009)
S. Goswami, B.J. Peipert, I. Helenowski, S.E. Yount, C. Sturgeon, Disease and treatment factors associated with lower quality of life scores in adults with multiple endocrine neoplasia type I. Surgery 162(6), 1270–1277 (2017). https://doi.org/10.1016/j.surg.2017.07.023
C.J. Yates, P.J. Newey, R.V. Thakker, Challenges and controversies in management of pancreatic neuroendocrine tumours in patients with MEN1. Lancet Diabetes Endocrinol. 3(11), 895–905 (2015). https://doi.org/10.1016/S2213-8587(15)00043-1
F.A. Correa, E.C. Farias, L.A. Castroneves, D.M. Lourenco Jr., A.O. Hoff, Quality of life and coping in multiple endocrine neoplasia type 2. J. Endocr. Soc. 3(6), 1167–1174 (2019). https://doi.org/10.1210/js.2018-00371
A. Falchetti, F. Marini, F. Tonelli, M.L. Brandi, Lessons from genes mutated in multiple endocrine neoplasia (MEN) syndromes. Ann. Endocrinol. 66(3), 195–205 (2005)
J. Grey, K. Winter, Patient quality of life and prognosis in multiple endocrine neoplasia type 2. Endocr.-Relat. Cancer 25(2), T69–T77 (2018). https://doi.org/10.1530/ERC-17-0335
B.J. Peipert, S. Goswami, I. Helenowski, S.E. Yount, C. Sturgeon, Financial burden is associated with worse health-related quality of life in adults with multiple endocrine neoplasia type 1. Surgery 162(6), 1278–1285 (2017). https://doi.org/10.1016/j.surg.2017.07.010
M.N. Mongelli, B.J. Peipert, S. Goswami, I. Helenowski, S.E. Yount, C. Sturgeon, Quality of life in multiple endocrine neoplasia type 2A compared with normative and disease populations. Surgery 164(3), 546–552 (2018). https://doi.org/10.1016/j.surg.2018.04.036
B.J. Peipert, S. Goswami, S.E. Yount, C. Sturgeon, Health-related quality of life in MEN1 patients compared with other chronic conditions and the United States general population. Surgery 163(1), 205–211 (2018). https://doi.org/10.1016/j.surg.2017.04.030
R.S. van Leeuwaarde, C.R.C. Pieterman, E.M.A. Bleiker, O.M. Dekkers, A.N. van der Horst-Schrivers, A.R. Hermus, W.W. de Herder, M.L. Drent, P.H. Bisschop, B. Havekes, M.R. Vriens, G.D. Valk, High fear of disease occurrence is associated with low quality of life in patients with multiple endocrine neoplasia type 1: results from the Dutch MEN1 Study Group. J. Clin. Endocrinol. Metab. 103(6), 2354–2361 (2018). https://doi.org/10.1210/jc.2018-00259
N. Frisch, P. Atherton, M.M. Doyle-Waters, M.L.P. MacLeod, A. Mallidou, V. Sheane, J. Ward, J. Woodley, Patient-oriented research competencies in health (PORCH) for researchers, patients, healthcare providers, and decision-makers: results of a scoping review. Res. Involv. Engagem. 6, 4 (2020). https://doi.org/10.1186/s40900-020-0180-0
J. Hanefeld, T. Powell-Jackson, D. Balabanova, Understanding and measuring quality of care: dealing with complexity. Bull. World Health Organ 95(5), 368–374 (2017). https://doi.org/10.2471/BLT.16.179309
A. Bowling, G. Rowe, N. Lambert, M. Waddington, K.R. Mahtani, C. Kenten, A. Howe, S.A. Francis, The measurement of patients’ expectations for health care: a review and psychometric testing of a measure of patients’ expectations. Health Technol. Assess. 16(30), (2012). https://doi.org/10.3310/hta16300
L.P. Forsythe, V. Szydlowski, M.H. Murad, S. Ip, Z. Wang, T.A. Elraiyah, R. Fleurence, D.H. Hickam, A systematic review of approaches for engaging patients for research on rare diseases. J. Gen. Intern. Med. 29(3), 788–800 (2014). https://doi.org/10.1007/s11606-014-2895-9
G.R. Polich, Rare disease patient groups as clinical researchers. Drug Discov. Today 17(3-4), 167–172 (2012). https://doi.org/10.1016/j.drudis.2011.09.020
European Commission. EU Survey. 2020. https://ec.europa.eu/eusurvey/home/welcome
K.J. Johnson, N.L. Mueller, K. Williams, D.H. Gutmann, Evaluation of participant recruitment methods to a rare disease online registry. Am. J. Med. Genet. Part A 164(7), 1686–1694 (2014). https://doi.org/10.1002/ajmg.a.36530
A.L. Crowe, A.J. McKnight, H. McAneney, Communication needs for individuals with rare diseases within and around the healthcare system of Northern Ireland. Front. Public Health 7(236), (2019). https://doi.org/10.3389/fpubh.2019.00236
M. Tadman, L. Martin, Multiple endocrine neoplasia. in Advanced Practice in Endocrinology Nursing, ed. by S. Llahana, C. Follin, C. Yedinak, A. Grossman (Springer International Publishing, Cham, 2019), pp. 1259–1278
M. Ruggeri, C. Drago, V. Moramarco, S. Coretti, J. Köppen, M.K. Islam, J. Gibson, R. Busse, J. van Exel, M. Sutton, J.E. Askildsen, C.M. Bond, R.F. Elliott, New professional roles and patient satisfaction: evidence from a European survey along three clinical pathways. Health Policy 122(10), 1078–1084 (2018). https://doi.org/10.1016/j.healthpol.2018.07.020
The authors would like to thank the European Commission for the EUSurvey platform used. The authors kindly acknowledge the support of EMENA’s Medical Advisory Board, particularly Paul Newey (Dundee, UK), Rajesh Thakker (Oxford, UK) and Gerlof Valk (Utrecht, The Netherlands). Furthermore, the authors highly appreciate the support of Endo-ERN co-chairs Alberto Pereira (Leiden, The Netherlands) and Olaf Hiort (Lübeck, Germany).
EURORDIS - Rare Diseases Europe (Paris, France) partially funded the project’s initial planning meeting.
Conflict of interest
The authors declare that they have no conflict of interest. J.G. and P.B. are European Patient Advocacy Group patient representatives and co-chairs of the main thematic group (MTG) 4 (Genetic Endocrine Tumour Syndromes) of the European Reference Network on Rare Endocrine Conditions (Endo-ERN).
The multinational umbrella group, European Multiple Endocrine Neoplasia Alliance (EMENA), planned and executed this study as a collaborative way for the various patient groups (EMENA members) to assess patients’ perspectives on quality of care rather than as an academic or medical research study. The authors therefore did not seek ethics approvals. The authors did not collect personal data of participants that would allow them to identify participants despite their topic being about rare diseases. All participants were asked for their consent to publish the results of the survey. The data collection covers 18 out of the 28 EU member states primarily due to the lack of participatory patient representation in some countries. The authors collected anonymized data thus complying with EU General Data Protection Regulations.
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
About this article
Cite this article
Drewitz, K.P., Grey, J., Brügmann, P. et al. Patients’ perception on the quality of care for multiple endocrine neoplasia disorders in Europe: an online survey from a patient support group. Endocrine 71, 634–640 (2021). https://doi.org/10.1007/s12020-021-02637-w
- Multiple endocrine neoplasia
- Quality of care
- Patient report
- Endocrine tumours
- Rare diseases