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Combined heterozygosity of factor V Leiden and the G20210A prothrombin gene mutation in a patient with cerebral cortical vein thrombosis
Author(s) -
Liu XiaoYuan,
Gabig Theodore G.,
Bang Nils U.
Publication year - 2000
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/1096-8652(200007)64:3<226::aid-ajh17>3.0.co;2-f
Subject(s) - prothrombin g20210a , factor v leiden , loss of heterozygosity , medicine , thrombosis , venous thrombosis , thrombophilia , coagulopathy , factor v , stroke (engine) , gastroenterology , cardiology , genetics , allele , gene , biology , mechanical engineering , engineering
Cerebral venous thrombosis (CVT) is a rare type of stroke with a variety of causes. Several reports have suggested that either factor V Leiden or G20210A prothrombin gene mutation is associated with an increased risk of CVT. The genetic thrombophilias are typically associated with other predisposing factors. We report a unique case of CVT in a patient with both the factor V Leiden and the G20210A prothrombin gene mutations without other identifiable precipitating factors in a 28‐year‐old white male in good health. MRI and cerebral arterial angiography showed cerebral cortical venous thrombosis. This case suggests that combined heterozygous individuals may be particularly prone to spontaneous thrombosis, like CVT. Am. J. Hematol. 64:226–228, 2000. © 2000 Wiley‐Liss, Inc.