Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration

Busch A, Hoffjan S, Bergmann F, Hartung B, Jung H, Hanel D, Tzschach A, Kadar J, Von Kodolitsch Y, Germer CT, Trobisch H, Strasser E, Wildenauer R (2016)

Publication Type: Journal article

Publication year: 2016

Journal

Orphanet Journal of Rare Diseases BioMed Central

Book Volume: 11

Journal Issue: 1

DOI: 10.1186/s13023-016-0491-2

Abstract

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.

Authors with CRIS profile

Erwin Strasser Medizinische Fakultät

Additional Organisation(s)

Department of Transfusion Medicine and Haemostaseology

Involved external institutions

Ruhr-Universität Bochum (RUB) DE Germany (DE) Universitätsklinikum Würzburg DE Germany (DE) Universitätsklinikum Köln DE Germany (DE) SYNLAB Holding Deutschland GmbH DE Germany (DE) Universitätsklinikum Hamburg-Eppendorf (UKE) DE Germany (DE) amedes Medizinische Dienstleistungen GmbH DE Germany (DE) Technische Universität Dresden DE Germany (DE)

How to cite

APA:

Busch, A., Hoffjan, S., Bergmann, F., Hartung, B., Jung, H., Hanel, D.,... Wildenauer, R. (2016). Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration. Orphanet Journal of Rare Diseases, 11(1). https://dx.doi.org/10.1186/s13023-016-0491-2

MLA:

Busch, Albert, et al. "Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration." Orphanet Journal of Rare Diseases 11.1 (2016).

BibTeX: Download