Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration
Open accessAbstract
BACKGROUND: The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coagulation contribute to the challenge in treatment strategies. Until now there is little information about clotting characteristics that might influence hemostasis decisively and eventually worsen emergency situations. RESULTS: 22 vascular type EDS patients were studied for hemoglobin, platelet volume and count, Quick and activated partial thromboplastin time, fibrinogen, factor XIII, von Willebrand disease, vitamin D and platelet aggregation by modern standard laboratory methods. Results show a high prevalence of over 50 % for platelet aggregation disorders in vascular type EDS patients, especially for collagen and epinephrine induced tests, whereas the plasmatic cascade did not show any alterations. Additionally, more than half of the tested subjects showed low vitamin D serum levels, which might additionally affect vascular wall integrity. CONCLUSION: The presented data underline the importance of detailed laboratory screening methods in vascular type EDS patients in order to allow for targeted application of platelet-interacting substances that might be of decisive benefit in the emergency setting.
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Vascular fragility and abnormal vessel structure cause easy bruising, severe varicosities, arterial dissection or aneurysm formation and eventual arterial or intestinal rupture that can lead to fatal consequences and reduced life span.
“Vascular fragility and abnormal vessel structure cause easy bruising, severe varicosities, arterial dissection or aneurysm formation and eventual arterial or intestinal rupture that can lead to fatal consequences and a reduced life span of patients [4,5].”
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- Authors
- Busch, A., Hoffjan, S., Bergmann, F., Hartung, B., Jung, H., Hanel, D., Tzschach, A., Kadar, J., von Kodolitsch, Y., Germer, C.-T., Trobisch, H., Strasser, E., & Wildenauer, R.
- Affiliations
- Universitätsklinikum Würzburg (DE)
- Ruhr University Bochum (DE)
- University of Cologne (DE)
- Synlab (Germany) (DE)
- Universitätsklinikum Erlangen (DE)
- Corresponding author
- Busch, Albert
- Venue
- Orphanet Journal of Rare Diseases
- Published
- 2016-08-03
- Volume
- 11
- Issue
- 1
- Pages
- 111-111
- ISSN
- 1750-1172 (ISSN-L)
- PMC
- PMC4971646
- OpenAlex
- W2499849677
- Cited by
- 38
- References
- 46
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 2 · 2023: 8 · 2021: 7 · 2020: 4 · 2019: 6 · 2018: 5 · 2017: 2
- FWCI
- 4.12
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Orphanet Journal of Rare Diseases (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Online Publication Service of Würzburg University (Würzburg University) (submittedVersion, cc-by)
- OPUS FAU (Kooperativer Bibliotheksverbund Berlin-Brandenburg (KOBV), on behalf of the Universitätsbibliothek Erlangen-Nürnberg) (submittedVersion, cc-by)
- Funders
- Eva Luise and Horst Köhler Foundation (n.a.)
- Society of Vascular Surgery Germany, DGG (n.a.)
- Topics
- Health Sciences › Medicine › Hematology › Platelet Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Medicine › Hematology › Blood Coagulation and Thrombosis Mechanisms
- Keywords
- vascular Ehlers-Danlos syndrome, platelet dysfunction, platelet aggregation disorder, vitamin D deficiency, coagulation, hemostasis, von Willebrand disease, factor XIII, fibrinogen, arterial bleeding, collagen-induced aggregation, epinephrine-induced aggregation, laboratory screening
- MeSH terms
- Adult, Aged, Blood Coagulation, Blood Coagulation Tests, Blood Platelets, Ehlers-Danlos Syndrome, Factor XIII, Female, Fibrinogen, Humans, Male, Middle Aged, Vitamin D, von Willebrand Factor, Young Adult
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