Genetic aspects of venous thrombosis

Abstract

Mutations in the genes coding for the proteins involved in blood coagulation may result in a bleeding tendency (haemophilia) or in a thrombotic tendency (thrombophilia). Diagnosis and treatment of the haemophilias have been studied extensively in the past. In general, it concerns monogenetic diseases where the absence of or the defect in a single clotting factor is the cause of the clinical phenotype. Inheritance can be autosomal dominant (e.g. von Willebrand disease), X-linked recessive (haemophilia A and B) or autosomal recessive, (e.g. deficiency of factors II, V, VII, X, XI). A systemic study of familial thrombophilia has started only in the seventies, although thrombophilic families had been reported in the literature since the beginning of the 20th century. Phenotypically, the disease seems to be autosomal dominant. This is easily explained by recent findings which support the hypothesis that in contrast to the genetic bleeding disorders, familial thrombophilia is an oligogenetic disorder [ [1] Seligsohn U. Zivelin A. Thrombophilia as a multigenic disorder. Thromb. Haemost. 1997; 78: 297-301 PubMed Google Scholar ].