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

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

Additional file 3: Figure S1. of Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration

von Willebrand Syndrome diagnostics: The graph shows qualitative alterations in vWF diagnosis. Bold red signs demonstrate deviation from the normal range (dotted line). (TIF 213 kb

Additional file 1: Table S1. of Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration

Blood count and plasmatic coagulation laboratory results: The table shows the results for each patient, listed to patient ID according to Table 1, with unit and normal measurement range. Bold red values show deviation from the normal range. Stroked out values are not available in the specific laboratory of examination. (DOCX 74 kb

Additional file 2: Table S2. of Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration

von Willebrand, Vitamin D and platelet diagnostics: The table shows the results for each patient, listed to patient ID according to Table 1, with unit and normal measurement range in brackets depending on the respective laboratory where the analysis was performed. For Vitamin D and functional platelet analysis, normal ranges differ among those depending on the commercial test used. Bold red values show deviation from the normal range. Stroked out values are not available in the specific laboratory of examination (n.a.d. = no applicable disease). (DOCX 111 kb