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(Stroke. 1996;27:1719-1720.)
© 1996 American Heart Association, Inc.

Articles

Cerebral Venous Thrombosis

Role of Activated Protein C Resistance and Factor V Gene Mutation

Robin L. Brey, MD Bruce M. Coull, MD

the University of Texas Health Science Center at San Antonio (R.L.B.) and the University of Arizona College of Medicine (Tucson) (B.M.C.).

Correspondence to Robin L. Brey, MD, Department of Medicine (Neurology), University of Texas Health Science Center, 7703 Floyd Curl Dr, San Antonio, TX 78284-7883.

Key Words: cerebral embolism and thrombosis • genetics • protein C • factor V

	Introduction

 
The number of well-described familial and acquired conditions that are predisposing factors for thrombosis continues to increase. Although most are uncommon, in 1993 a new condition that has ultimately been recognized as activated protein C resistance (APC-R) was reported.¹ This condition is present in approximately half of thrombosis-prone families and has an autosomal dominant inheritance pattern with variable penetrance.² The genetic basis for APC-R is a point mutation in the coagulation factor V gene at the site where APC inactivates Va (Arg⁵⁰⁶).³ This common factor V gene mutation (Arg⁵⁰⁶Gln), also termed factor V Leiden, leads to thrombosis caused by the persistence of a degradation-resistant Va procoagulant in homozygous and heterozygous individuals. Factor V Leiden is seen in 90% of patients with venous thrombosis and APC-R, suggesting that there may be other genetic or functional defects responsible for APC-R in a minority of patients.⁴ The prevalence of the factor V mutation varies by geography and ethnicity, ranging from 2% to 15% in western societies.⁴ At present, it is considered to be the most common mutation in the European gene pool, leading Dahlback⁴ to speculate that it may convey a survival advantage.

The clinical significance of the factor V Leiden mutation in peripheral venous thrombosis has now become firmly established. APC-R is found in 20% to 60% of patients with deep venous thrombosis, depending on the selection criteria, the assay system for APC used, and the population studied (reviewed in Reference 4). Heterozygosity for the factor V gene mutation is . . . [Full Text of this Article]

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