Last update:
11-Jul-2004

Arch Hellen Med, 2000, 17(Supplement):26-34

LECTURE

Genetic risk factors of thrombophilia

P.H. REITSMA
Laboratory for Experimental Internal Medicine,
Academic Medical Center, Amsterdam, The Netherlands

Venous thromboembolism is a common multifactorial disease. Varying combinations of risk factors play a role in the onset of the disease. These risk factors are often environmental, but also genetic risk factors are essential. These genetic risk factors include common gain-of function mutations in the procoagulant plasma protein factors V and prothrombin that occur with a relatively high prevalence in Caucasian populations. Mutations in anticoagulant factors are also important. These loss-of function mutations are characterized by an overwhelming diversity but low abundance in the population. This low prevalence in the population is probably caused by the loss of mutant alleles from the gene pool through critically ill homozygous subjects. The gain-of function mutations in procoagulant proteins differ from the loss-of function mutations in this respect, as homozygous individuals are relatively mildly affected.

Key words: Antithrombin deficiency, Factor V-Leiden, Protein C deficiency, Protein S deficiency, Prothrombin 2021 OA.