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An underestimated combination of opposites resulting in enhanced thrombotic tendency
- Publication Year :
- 2005
-
Abstract
- Heterozygous carriers of factor V (FV) Leiden who also carry FV deficiency often develop venous thromboembolism, but the thrombosis risk associated with this rare condition (pseudohomozygous activated protein C resistance) is still unclear. The thrombosis risk of genetically characterized pseudohomozygotes (n = 6) was compared with that of FV Leiden heterozygotes (n = 683) and homozygotes (n = 50) recruited within a large cohort study on familial thrombophilia. Both thrombin generation and Kaplan-Meier thrombosis-free survival analyses were performed in different FV genotype groups. FV Leiden pseudohomozygotes showed significantly higher thrombosis risk than heterozygotes. The thrombin generation test in pseudohomozygotes showed a pattern similar to homozygotes. Accordingly, early thrombotic manifestations occurred in pseudohomozygotes at a similar rate as in homozygotes. Thus, failure to recognize FV deficiency in FV Leiden heterozygotes may result in an underestimate of the thrombosis risk and inadequate management of affected patients.
- Subjects :
- Adult
Risk
Heterozygote
Genotype
Immunology
Thrombophilia
Biochemistry
Disease-Free Survival
Cohort Studies
Thromboembolism
Factor V Leiden
medicine
Coagulopathy
Humans
Genetic Predisposition to Disease
Risk factor
Activated Protein C Resistance
Aged
Aged, 80 and over
Venous Thrombosis
biology
business.industry
Homozygote
Factor V
Age Factors
Anticoagulants
Heterozygote advantage
Thrombosis
Cell Biology
Hematology
Middle Aged
medicine.disease
Mutation
biology.protein
Factor V Deficiency
Activated protein C resistance
business
Protein C
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....de98bcb852fc2962e0ffe16b5a7a49a2