Budd–Chiari syndrome in a patient heterozygous for the point mutation C20221T of the prothrombin gene

Abstract

Budd–Chiari syndrome (BCS), with hepatic venous obstruction, is an uncommon disease usually associated with ascites, hepatomegaly, abdominal pain and progression to cirrhosis. Myeloproliferative syndromes are the commonest causes of BCS. Other causes include oral contraceptive use, malignant neoplasms and thrombophilic states [1]. Lately, it has been shown that the inherited Factor V Leiden and the prothrombin G20210A mutation can also increase risk for BCS [2-4]. The prothrombin G20210A mutation, first described in 1996, increases the risk for developing venous thrombosis almost 3-fold in heterozygotes and its prevalence in the general Caucasian population is 1–4%. Heterozygotes display on average a 27% increased prothrombin activity compared to wild type individuals [5]. Recently, a new point mutation in the 3′ region of the prothrombin gene at position 20221 was reported in a Lebanese/Syrian family, probably exerting a thromboembolic risk [6]. Here we describe another case with this new point mutation C20221T of the prothrombin gene detected in a 28-year-old man with Budd–Chiari syndrome and thrombocytosis. [excerpt]