An update on the new classification of Ehlers‐Danlos syndrome and review of the causes of bleeding in this population
Abstract
It has long been hypothesized that bleeding symptoms in people with hypermobility occur as a result of abnormalities in the collagen of the vessel wall or the connective tissues. The bleeding symptoms, particularly in the skin, have been attributed to the fragility of skin and blood vessels caused by "defective collagen wickerwork" of the reticular layer of the skin. Collagen, which forms the framework of vessel walls, is altered in many patients with Ehlers-Danlos syndrome (EDS) leading to weakening of the vessel wall or the supporting tissues. Another important function of subendothelial collagen is its interaction with platelets and von Willebrand factor, which results in the propagation of a platelet plug. Thus, abnormalities in subendothelial collagen may alter its interaction with platelets and VWF. More recently, hypermobile-EDS (hEDS) has been associated with mast cell disorders, a condition independently associated with bleeding symptoms. It has also been observed that patients with mild bleeding disorders have a more severe bleeding phenotype when they have co-existing joint hypermobility.
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There was a positive association between spontaneous bleeding and suspected MCAS.
“As suggested by Jesudas et al. [29], we found a positive association between spontaneous bleeding and suspected MCAS.”
From Are patients with hypermobile Ehlers–Danlos syndrome or hypermobility spectrum disorder so different? (2021) · cites this paper as [29]
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 · cited 1× · see citing works
“(3,4) The above interaction enables collagen interaction with platelet receptors.”
BackgroundA 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
Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H., & Levy, H. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31538 · Cited by 499 · see citing works
Ehlers-Danlos syndrome, classical type
Bowen, J. M., Sobey, G. J., Burrows, N. P., Colombi, M., Lavallee, M. E., Malfait, F., & Francomano, C. A. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31548 · Cited by 184 · see citing works
Mast cell disorders in Ehlers-Danlos syndrome
Seneviratne, S. L., Maitland, A., & Afrin, L. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31555 · Cited by 107 · 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
“However, patients with abnormal hypermobility experience more abnormal bleeding [29].”
Background
- Authors
- Jesudas, R., Chaudhury, A., & Laukaitis, C. M.
- Affiliations
- Bleeding & Clotting Disorders Institute (US)
- Center for Inherited Blood Disorders (US)
- University of Arizona (US)
- Corresponding author
- Jesudas, Rohith
- Venue
- Haemophilia
- Publisher
- Wiley
- Published
- 2019-06-10
- Volume
- 25
- Issue
- 4
- Pages
- 558-566
- ISSN
- 1351-8216 (ISSN-L)
- 1365-2516
- OpenAlex
- W2951591722
- Cited by
- 43
- References
- 5
- Citations by year
- 2026: 3 · 2025: 10 · 2024: 9 · 2023: 6 · 2022: 5 · 2021: 8 · 2020: 1 · 2019: 1
- FWCI
- 0.50
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Haemophilia (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Aniara Diagnostica
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Medicine › Hematology › Platelet Disorders and Treatments
- Health Sciences › Medicine › Hematology › Hemophilia Treatment and Research
- Keywords
- Ehlers-Danlos syndrome, joint hypermobility, bleeding disorders, skin fragility, collagen abnormalities, subendothelial collagen, platelet function, von Willebrand factor, mast cell disease
- MeSH terms
- Contusions, Ehlers-Danlos Syndrome, Hemorrhage, Humans
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