Abstract

MOTA, Fernando; GONCALVES, Luciana Ricca  and  MANSILHA, Armando. Screening of familiar trombophylia in patients with deep venous thrombosis. Angiol Cir Vasc [online]. 2011, vol.7, n.3, pp.126-137. ISSN 1646-706X.

Deep vein thrombosis is a common and important disease that occurs in individuals with known or unknown risk factors. Its pathogenesis is multifactorial and includes genetic and acquired factors. Two types of genetic defects can cause venous thrombosis: mutations that result in deficiency of natural inhibitors of coagulation and mutations that increase the level / function of coagulation factors. The aim of this work is to refer and discuss the situations in which the presence of inherited thrombophilia should be screened in the context of an episode of deep vein thrombosis. The deficiency of antithrombin, protein C and protein S, factor V Leiden, mutation G20210A in prothrombin gene and elevated levels of factor VIII, in chronological order, have been reported as a risk factor for venous thrombosis. Despite the association between inherited thrombophilia and the risk of venous thrombosis being well documented, the same does not apply for the risk of recurrence. The only situation where the risk of recurrence has been documented is in young patients with deficiency of natural inhibitors of coagulation in the context of a first episode of venous thrombosis and / or a positive family history of venous thrombosis. Currently there is no consensus on screening for inherited thrombophilia in the context of deep vein thrombosis. It would be important to follow the current guidelines in order to standardize the approach to patients with deep vein thrombosis and facilitate the conduct of studies to elaborate new guidelines with high quality evidence-based recommendations.

Keywords : Deep vein thrombosis; Hereditary thrombophilia; Sreening; Natural inhibitors of coagulation; Coagulation factors.

        · abstract in Portuguese     · text in Portuguese     · Portuguese ( pdf )