Genetics of venous thrombosis


Frits R. Rosendaal, Department of Clinical Epidemiology, C7-P, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, the Netherlands.
Tel.: +31 71 526 4037; fax: +31 71 5266994.
E-mail: F.R.Rosendaal@LUMC.NL


Summary.  Venous thrombosis (deep vein thrombosis, pulmonary embolism) is a common and serious disorder, with genetic and acquired risk factors. The genetic risk factors can be subdivided in to those that are strong, moderate and weak. Strong risk factors are deficiencies of antithrombin, protein C and protein S. Moderately strong are factor V Leiden, prothrombin 20210A, non-O blood group and fibrinogen 10034T. There are many weak genetic risk factors, including fibrinogen, factor XIII and factor XI variants. Even for moderately strong risk factors (relative risks 2–5), the majority of carriers will never develop thrombosis.