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

• Published in: World journal of clinical cases Vol. 2; no. 3; pp. 75 - 77
• Main Authors: Refaat, Marwan, Hotait, Mostafa, Winston, Brion
• Format: Journal Article
• Language: English
• Published: United States Baishideng Publishing Group Co., Limited 16.03.2014
• Subjects: Case Report; Ehlers-Danlos syndrome; Factor V Leiden; Platelets; Coagulopathy
• ISSN: 2307-8960; 2307-8960
• DOI: 10.12998/wjcc.v2.i3.75

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.