What is the role of genetics in the pathophysiology of thrombophlebitis?

Updated: Aug 31, 2020
  • Author: Padma Chitnavis, MD; Chief Editor: Dirk M Elston, MD  more...
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Answer

Resistance to activated protein C (APC) is the most common genetic risk factor associated with venous thrombosis. Most cases are due to a point mutation in the factor V gene (factor V Leiden FVL]), which subsequently prevents the cleavage and disruption of activated factor V by APC and thus promotes ongoing clot development. In approximately 3-8% of white adults, this mutation is heterozygous, conferring a 5-fold increased lifetime risk of venous thrombosis compared with the general population. [9] Double heterozygosity with FVL and protein C, protein S, or antithrombin deficiency is reported, and affected individuals have an increased risk of thrombosis. Women with FVL heterozygosity who are also taking oral contraceptives have a 35-fold increase in the risk of thrombosis. Homozygotes of FVL have an 80-fold increased risk for venous thromboembolism. [10]


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