Homozygous factor V Leiden mutation in type IV Ehlers-Danlos patient

Abstract

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders caused by collagen synthesis defects. Several hemostatic abnormalities have been described in EDS patients that increase the bleeding tendencies of these patients. This case report illustrates a patient with an unusual presentation of a patient with type IV EDS, platelet δ-storage pool disease and factor V Leiden mutation. Young woman having previous bilateral deep vein thrombosis and pulmonary emboli coexisting with ruptured splenic aneurysm and multiple other aneurysms now presented with myocardial infarction. Presence of factor V Leiden mutation raises the possibility that the infarct was due to acute coronary thrombosis, although coronary artery aneurysm and dissection with myocardial infarction is known to occur in vascular type EDS. This is the first report in the medical literature of factor V Leiden mutation in an EDS patient which made the management of our patient challenging with propensity to both bleeding and clotting.

Keywords: Ehlers-Danlos syndrome; Factor V Leiden; Platelets; Coagulopathy

Core tip: Hemostatic abnormalities that have already been described in Ehlers-Danlos syndrome patients include platelet abnormalities (release defects, δ-storage pool disease) as well as clotting factor deficiencies that increase the bleeding tendencies of patients. The coexistence of platelet δ-storage pool disease and factor V Leiden mutation in our patient manifested as having aneurysms of the splenic, renal, hepatic, gastric, mesenteric arteries and diffuse aneurysms of the upper and lower extremities as well as bilateral lower extremity deep vein thromboses and pulmonary emboli. This propensity to both bleeding and clotting made the management of our patient challenging on this presentation with acute anterolateral myocardial infarction.