Skeletal fragility: an emerging complication of Ehlers–Danlos syndrome
Abstract
Ehlers-Danlos syndrome (EDS) is an emerging cause of skeletal fragility. Mechanism of bone damage are probably multifactorial in line with the different skeletal phenotypes that can be found in clinical practice. A structured approach to clinical management of bone metabolic complication in EDS is proposed.
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None of the prior studies suggested a difference between hEDS and HSD patients, but a high prevalence of bone involvement seems confirmed.
“None of these prior studies suggested a difference between hEDS and HSD patients, but a high prevalence of bone involvement seems confirmed.”
From Are patients with hypermobile Ehlers–Danlos syndrome or hypermobility spectrum disorder so different? (2021) · cites this paper as [34]
Cites
The 2017 international classification of the Ehlers–Danlos syndromes
Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31552 · Cited by 1,936 · see citing works
Self-citationA framework for the classification of joint hypermobility and related conditions
Castori, M., Tinkle, B., Levy, H., Grahame, R., Malfait, F., & Hakim, A. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31539 · Cited by 602 · see citing works
Mazziotti, G., Frara, S., & Giustina, A. (2018) · Endocrine Reviews · doi:10.1210/er.2018-00005 · Cited by 181 · see citing works
Self-citationRitelli, M., Dordoni, C., Venturini, M., Chiarelli, N., Quinzani, S., Traversa, M., Zoppi, N., Vascellaro, A., Wischmeijer, A., Manfredini, E., et al. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-58 · Cited by 134 · see citing works
Self-citationColombi, M., Dordoni, C., Chiarelli, N., & Ritelli, M. (2015) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31429 · Cited by 127 · see citing works
Self-citationChiarelli, N., Carini, G., Zoppi, N., Dordoni, C., Ritelli, M., Venturini, M., Castori, M., & Colombi, M. (2016) · PLOS ONE · doi:10.1371/journal.pone.0161347 · Cited by 78 · see citing works
Self-citationMazziotti, G., Formenti, A. M., Frara, S., Olivetti, R., Banfi, G., Memo, M., Maroldi, R., Giubbini, R., & Giustina, A. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2017-01986 · Cited by 57 · see citing works
Zoppi, N., Chiarelli, N., Binetti, S., Ritelli, M., & Colombi, M. (2018) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2018.01.005 · Cited by 49 · see citing works
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Aubry-Rozier, B., Schwitzguebel, A., Valerio, F., Tanniger, J., Paquier, C., Berna, C., Hügle, T., & Benaim, C. (2021) · Rheumatology International · doi:10.1007/s00296-021-04968-3 · Cited by 66 · see citing works
“[34] proposed to screen all patients with hEDS by dual X-ray absorptiometry.”
Background
- Authors
- Formenti, A. M., Doga, M., Frara, S., Ritelli, M., Colombi, M., Banfi, G., & Giustina, A.
- Affiliations
- IRCCS Ospedale Galeazzi - Sant'Ambrogio (IT)
- Vita-Salute San Raffaele University (IT)
- University of Brescia (IT)
- Corresponding author
- Giustina, Andrea
- Venue
- Endocrine
- Published
- 2018-12-15
- Volume
- 63
- Issue
- 2
- Pages
- 225-230
- ISSN
- 0969-711X (ISSN-L)
- 1355-008X
- 1559-0100
- OpenAlex
- W2905049049
- Cited by
- 17
- References
- 8
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 4 · 2021: 4 · 2020: 4 · 2019: 2
- FWCI
- 1.53
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Endocrine (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System (Università degli Studi di Brescia) (submittedVersion)
- Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Medicine › Orthopedics and Sports Medicine › Bone health and osteoporosis research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Keywords
- Ehlers-Danlos syndrome, bone fragility, skeletal phenotype, clinical management
- MeSH terms
- Adolescent, Adult, Bone Diseases, Metabolic, Calcium Carbonate, Ehlers-Danlos Syndrome, Female, Follow-Up Studies, Humans, Lumbar Vertebrae, Risk Factors, Spinal Diseases, Vitamin D, Vitamin D Deficiency, Bone Density, Spinal Fractures
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