Bone involvement in adult patients affected with Ehlers-Danlos syndrome.
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The Ehlers-Danlos syndrome is characterized by abnormal connective tissue but bone involvement is debated. We found a reduced BMD and bone quality and increased prevalence of asymptomatic vertebral fractures in eugonadal patients with Ehlers-Danlos syndrome. These findings suggest the need of a bone health evaluation in these patients.
The Ehlers-Danlos (EDS) syndrome is characterized by abnormalities of the connective tissue leading to ligamentous laxity and skin and tissue fragility. We evaluated the bone metabolism, bone mineral density (BMD) and bone quality (measured by trabecular bone score, TBS), and the prevalence of vertebral fractures (VFx) in a group of eugonadal adult EDS patients.
Fifty consecutive Caucasian patients, aged 30–50 years (36 females, 14 males) with classical or hypermobility EDS and 50 age-, gender-, and body mass index (BMI)-matched control subjects were enrolled. In all subjects’ calcium-phosphorous metabolism, bone turnover, BMD at the lumbar spine (LS) and femur (femoral neck, FN and total femur, FT) and TBS by dual-energy X-ray absorptiometry, and the VFx presence by spine radiograph were assessed.
Patients showed reduced BMD (Z-scores LS −0.45 ± 1.00, FN −0.56 ± 1.01, FT −0.58 ± 0.92) and TBS (1.299 ± 0.111) and increased prevalence of morphometric VFx (32 %) than controls (Z-scores LS 0.09 ± 1.22, FN 0.01 ± 0.97, FT 0.08 ± 0.89; TBS 1.382 ± 0.176; VFx 8 %, p <0.05 for all comparisons), while vitamin D levels, calcium-phosphorous metabolism, and bone turnover were comparable. Fractured EDS patients showed lower TBS values than non-fractured ones (1.245 ± 0.138 vs 1.325 ± 0.086, p < 0.05), despite comparable BMD. In EDS patients, the VFx presence was significantly associated with TBS even after adjusting for sex, age, BMD, EDS type, and falls frequency.
EDS patients have reduced BMD and bone quality (as measured by TBS) and increased prevalence of VFx.
KeywordsBone quality Ehlers-Danlos syndrome Trabecular bone score Vertebral fractures
Compliance with ethical standards
All subjects gave their witnessed informed consent before entering the study, which was approved by the Ethical Committee of our Hospital and in accordance with Helsinki Declaration II.
Funding is not applicable in this study.
Conflict of Interest
- 9.Bousson V, Bergot C, Sutter B, Levitz P, Cortet B, the Scientific Committee of the GRIO (Groupe de Recherche et d’Information sur les Ostéoporoses) (2012) Trabecular bone score (TBS): available knowledge, clinical relevance, and future prospects. Osteoporos Int 23:1489–1501. doi: 10.1007/s00198-011-1824-6 CrossRefPubMedGoogle Scholar
- 10.Hans D, Barthe N, Boutroy S, Pothuaud L, Winzenrieth R, Krieg MA (2011) Correlations between trabecular bone score, measured using anteroposterior Dual Energy X-ray Absorptiometry acquisition and 3-dimensional parameters of bone microarchitecture: an experimental study on human cadaver vertebrae. J Clin Densitom 14:302–312. doi: 10.1016/j.jocd.2011.05.005 CrossRefPubMedGoogle Scholar
- 12.Pothuaud L, Barthe N, Krieg MA, Mehsen N, Carceller P, Hans D (2009) Evaluation of the potential use of trabecular bone score to complement bone mineral density in the diagnosis of osteoporosis: a preliminary spine BMD-matched, case-control study. J Clin Densitom 12:170–176. doi: 10.1016/j.jocd.2008.11.006 CrossRefPubMedGoogle Scholar
- 13.Rabier B, Héraud A, Grand-Lenoir C, Winzenrieth R, Hans D (2010) A multicentre, retrospective case-control study assessing the role of trabecular bone score (TBS) in menopausal Caucasian women with low areal bone mineral density (BMDa): analysing the odds of vertebral fracture. Bone 46:176–181. doi: 10.1016/j.bone.2009.06.032 CrossRefPubMedGoogle Scholar
- 14.Winzenrieth R, Dufour R, Pothuaud L, Hans D (2010) A retrospective case-control study assessing the role of trabecular bone score in postmenopausal Caucasian women with osteopenia: analyzing the odds of vertebral fracture. Calcif Tissue Int 86:104–109. doi: 10.1007/s00223-009-9322-y CrossRefPubMedGoogle Scholar
- 18.Eller-Vainicher C, Morelli V, Ulivieri FM, Palmieri S, Zhukouskaya VV, Cairoli E, Pino R, Naccarato A, Scillitani A, Beck-Peccoz P, Chiodini I (2012) Bone quality, as measured by Trabecular Bone Score (TBS), in patients with adrenal incidentalomas with and without subclinical hypercortisolism. J Bone Miner Res 27:2223–2230. doi: 10.1002/jbmr.1648 CrossRefPubMedGoogle Scholar
- 20.UpToDate calculator. In Calcium Correction in Hypoalbuminemia, version 18.2. Waltham, MA: Wolters Kluwer-Health (available:www.uptodate.com), 2010.
- 24.Yano H, Hamanaka R, Nakamura-Ota M, Adachi S, Zhang JJ, Matsuo N et al (2014) Sp7/Osterix induces the mouse pro-α2(I) collagen gene (Col1a2) expression via the proximal promoter in osteoblastic cells. Biochem Biophys Res Commun 452:531–536. doi: 10.1016/j.bbrc.2014.08.100 CrossRefPubMedGoogle Scholar
- 25.Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, López-González V et al (2013) Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. Orphanet J Rare Dis 21:8–78. doi: 10.1186/1750-1172-8-78 Google Scholar