gms | German Medical Science

Introduction: The Ehlers-Danlos syndrome is a rare genetic disorder characterized by a heterogeneous mixture of orthopedic, visceral, ophthalmological and vascular affection based on an even broader variety of genetic subtypes. Besides disturbance in all-day life, vascular type EDS often results in life threatening spontaneous bleeding or aneurysm formation with high risk of rupture. Additional impairment of normal hemostasis, especially in emergency scenarios, is suspected.

Materials and methods: In collaboration with the German National EDS Initiative and funding by the Eva Luise and Horst Köhler Foundation for Rare Diseases, we set up a nationwide screening of blood coagulation tests in vascular type and mixture type EDS patients under normal conditions. Screening was made for blood count, bleeding time, factor XIII, fibrinogen, PFA100, Born aggregometry, ROTEM analysis, C-reactive protein and von Willebrand Factor activity.

Results: The genetics of 20 vascular type EDS diagnosed patients in Germany are very heterogeneous, making results difficult to compare. Coagulation disorders of various kinds however do appear and affect every aspect of the coagulation cascade. Phenotypes seem to worse within families with clear inheritance patterns suggesting a gain of loss of function. Additionally Vitamin D3 shortage might impair bone mineralization worsening common orthopedic symptoms.

Outlook: Decision making for vascular surgery in EDS patients should be made very carefully. A complete coagulation workup together with a hematologist should precede surgery whenever possible. Our study will continue try to enroll patients in order to generalize results.