Budd-Chiari syndrome: combination of genetic defects and the use of oral contraceptives leading to hypercoagulability

A young female, who had been in excellent health and had used third-generat ion oral contraceptives, was admitted to hospital because of abdominal pain and ascites. Budd-Chiari syndrome (BCS) was diagnosed by radiographic and histological examination. Tests for myeloproliferative disease, deficiency of coagulation inhibitors and paroxysmal nocturnal haemoglobinuria were neg ative. DNA investigation showed a double heterozygous defect: the Arg506Gln mutation in the factor V gene (factor V Leiden) and G20210A nucleotide sub stitution in the prothrombin gene. This double defect was also found in the patient's father, who had never experienced an episode of venous thromboem bolism, Genetic and acquired thrombogenic risk factors are being detected i ncreasingly in patients with BCS, With the discovery of new genetic defects leading to hypercoagulabiulity an increasing number of patients with serio us thrombotic manifestations, such as BCS, will exhibit concurrence of here ditary and acquired risk factors for thrombosis.