Family history of venous thromboembolism as a risk factor and genetic research tool.
Författare
Summary, in English
Familial clustering of venous thromboembolism (VTE) was described as far back as 1905 by Briggs. Although Egeberg discovered inherited deficiency of antithrombin in 1965, it was not until Dahlbäck discovered resistance to activated protein C in 1993 that it became clear that genetic factors are common risk factors of VTE. Several genes have been linked to familial aggregation of VTE and genome-wide association studies have found several novel gene loci. Still, it has been estimated that much of the heritability for VTE remains to be discovered. Family history (FH) of VTE is therefore still important to determine whether a patient has an increased genetic risk of VTE. FH has the potential to represent the sum of effects and interactions between environmental and genetic factors. In this article the design, methodology, results, clinical and genetic implications of FH studies of VTE are reviewed. FH in first-degree relatives (siblings and/or parents) is associated with a 2-3 times increased familial relative risk (FRR). However, the FRR is dependent on age, number of affected relatives, and presentation of VTE (provoked/unprovoked). Especially high familial risks are observed in individuals with two or more affected siblings (FFR> 50). However, the familial risk for recurrent VTE is much lower or non-significant. Moreover, FH of VTE appears mainly to be important for venous diseases (i. e. VTE and varicose veins). The familial associations with other diseases are weaker. In conclusion, FH of VTE is an important research tool and a clinically potential useful risk factor for VTE.
Avdelning/ar
Publiceringsår
2015
Språk
Engelska
Sidor
890-900
Publikation/Tidskrift/Serie
Thrombosis and Haemostasis
Volym
114
Issue
5
Länkar
Dokumenttyp
Artikel i tidskrift
Förlag
Schattauer GmbH
Ämne
- Hematology
Status
Published
Forskningsgrupp
- Family Medicine and Clinical Epidemiology
- Family Medicine, Cardiovascular Epidemiology and Lifestyle
ISBN/ISSN/Övrigt
- ISSN: 0340-6245