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Family testing

Thrombophilia testing of asymptomatic relatives of patients with a history of VTE has not been shown to reduce the incidence of VTE. The annual risk of unprovoked thrombosis in affected family members is low.

Case-finding of asymptomatic relatives with low risk thrombophilias such as heterozygosity for FV Leiden or PGV is not indicated. Screening for AT deficiency is warranted in family members of individuals with AT deficiency.

If family history suggests a high degree of genetic penetrance it may be informative to test symptomatic patients and their asymptomatic relatives with a view to informing clinical management at times of high thrombotic risk.

VTE has a clear familial component, independent of the presence or absence of a known thrombophilia risk factor. In symptomatic families negative thrombophilia test results may be falsely reassuring.