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

作　　者：Marwan Refaat Mostafa Hotait Brion Winston 

机构地区：[1]Department of Cardiology, American University Medical Center [2]Capital Cardiology Associates, 7 Southwoods Blvd. Albany, NY 12211, United States

出　　处：《World Journal of Clinical Cases》2014年第3期75-77,共3页世界临床病例杂志

摘　　要：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.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.

关 键 词：Ehlers-Danlos syndrome Factor Ⅴ Leiden PLATELETS COAGULOPATHY 

分 类 号：R593.2[医药卫生—内科学]