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Genetics of venous thrombosis
1Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands. F.R.Rosendaal@LUMC.NL
Journal of Thrombosis and Haemostasis : JTH
|July 28, 2009
Summary
Genetic factors significantly influence venous thrombosis risk. While strong genetic predispositions exist, most carriers of moderately strong genetic risk factors for deep vein thrombosis and pulmonary embolism do not develop the condition.
Area of Science:
- Genetics
- Hematology
- Vascular Medicine
Background:
- Venous thromboembolism (deep vein thrombosis, pulmonary embolism) is a prevalent and severe condition.
- Risk is influenced by both genetic and acquired factors.
- Genetic risk factors are categorized as strong, moderate, and weak.
Purpose of the Study:
- To outline the spectrum of genetic risk factors for venous thrombosis.
- To differentiate between strong, moderate, and weak genetic contributors.
- To contextualize the clinical significance of genetic variants.
Main Methods:
- Review of established genetic risk factors for venous thromboembolism.
- Classification of genetic factors based on their relative risk.
- Analysis of prevalence and penetrance of genetic variants.
Main Results:
- Strong genetic risk factors include deficiencies in antithrombin, protein C, and protein S.
- Moderately strong factors include Factor V Leiden, prothrombin 20210A, non-O blood group, and fibrinogen 10034T.
- Numerous weak genetic factors exist, such as variants in fibrinogen, factor XIII, and factor XI.
- The majority of individuals with moderately strong genetic risk factors do not develop thrombosis.
Conclusions:
- Genetic predisposition plays a crucial role in venous thrombosis.
- Understanding the hierarchy of genetic risk factors is essential for risk assessment.
- Despite genetic predispositions, thrombosis development is multifactorial, and most carriers remain asymptomatic.
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