Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S
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چکیده
منابع مشابه
Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S.
Inherited resistance to activated protein C (APC), which is caused by a single point mutation in the gene for factor V, is a common risk factor for thrombosis. In this study, the prevalence of APC resistance in 18 unrelated thrombosis-prone families with inherited protein S deficiency was investigated to determine its role as additional genetic risk factor for thrombosis. In addition, a detaile...
متن کاملActivated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families.
Heterozygous protein C deficiency is associated with an increased risk for thrombosis. This association is restricted to a minority of protein C-deficient families, which have been defined as clinically dominant protein C-deficient. In contrast, in the clinically recessive protein C-deficient families, only the homozygous family members are (severely) affected. One possible explanation for this...
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It is well known that thalassemic patients exhibit an increased frequency of thrombotic events. Most individuals with resistance to activated protein C (APCR) are the result of a point mutation replacing Arg 506 with Gln in the factor V aminoacidic sequence (factor V Leiden). Recently APCR has been shown to account for up to 50% of cases of thrombophilia. In this report, we describe a 10 year o...
متن کاملFactor V and protein S as cofactors to activated protein C.
BACKGROUND AND OBJECTIVE Activated protein C (APC)-resistance, the most common risk factor for venous thrombosis described so far, is due to a single point mutation in the factor V gene. As a result, inactivation of factor-activated factor V by APC is impaired, which leads to a hypercoagulable state and a lifelong increased risk of thrombosis. The importance of protein S as an anticoagulant pro...
متن کاملRisk of venous thromboembolism and clinical manifestations in carriers of antithrombin, protein C, protein S deficiency, or activated protein C resistance: a multicenter collaborative family study.
Deficiencies of antithrombin (AT), protein C (PC) or protein S (PS), and activated protein C resistance (APCR) are very well-established coagulation defects predisposing to venous thromboembolism (VTE). We performed a retrospective cohort family study to assess the risk for VTE in individuals with AT, PC, or PS deficiency, or APCR. Five hundred thirteen relatives from 9 Italian centers were sel...
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ژورنال
عنوان ژورنال: Blood
سال: 1995
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v85.12.3518.bloodjournal85123518