Factor V Leiden related Budd-Chiari syndrome

• Published in: Gut Vol. 48; no. 2; pp. 264 - 268
• Main Authors: Deltenre, P, Denninger, M-H, Hillaire, S, Guillin, M-C, Casadevall, N, Brière, J, Erlinger, S, Valla, D-C
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and British Society of Gastroenterology 01.02.2001; BMJ; BMJ Publishing Group Ltd; BMJ Publishing Group LTD
• Subjects: Adult; Alanine Transaminase - blood; Biological and medical sciences; Budd-Chiari syndrome; Budd-Chiari Syndrome - diagnosis; Budd-Chiari Syndrome - genetics; Budd-Chiari Syndrome - metabolism; Confidence intervals; Digestive system; Diseases; Factor V - genetics; Female; Gangrene; Genetic aspects; Hepatic vein thrombosis; Humans; inferior vena cava obstruction; Investigative techniques, diagnostic techniques (general aspects); ischaemic necrosis; Liver; Male; Medical sciences; Middle Aged; Mutation; myeloproliferative disorders; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Pregnancy; Pregnancy Complications, Hematologic - etiology; Protein C - metabolism; Proteins; Risk Factors; thrombophilia; Thrombophilia - diagnosis; Thrombophilia - genetics; Thrombophilia - metabolism; Thrombosis; Veins & arteries; Vena cava; Human; Factor V Leiden; Portal circulation disease; Clinical form; Cardiovascular disease; Thrombosis; Venous disease; Vascular disease; Risk factor; Budd Chiari syndrome; Digestive diseases; Biological effect; Molecular biology; Comparative study
• ISSN: 0017-5749; 1468-3288; 1458-3288
• DOI: 10.1136/gut.48.2.264

BACKGROUND The role of factor V Leiden as a cause of Budd-Chiari syndrome has only recently been described. AIMS To assess the specific features of factor V Leiden related Budd-Chiari syndrome. PATIENTS Sixty three consecutive patients with hepatic vein or terminal inferior vena cava thrombosis. METHODS Standardised chart review. RESULTS Factor V Leiden was found in 20 patients (31% (95% CI 20–43)). In the subgroup of patients with, compared with the subgroup without, factor V Leiden, a combination of prothrombotic states was more common (70% (95% CI 50–90) v 14% (95% CI 3–24)); inferior vena cava thrombosis was more frequent (40% (95% CI 19–61)v 7% (95% CI 0–14)); and distribution of initial alanine aminotransferase values was bimodal (almost normal or extremely increased) versus unimodal (p=0.003). Factor V Leiden accounted for four of five cases of massive ischaemic necrosis (transaminases >50-fold the upper limit of normal values) (p=0.014), and also for all three cases developing during pregnancy. Patients with and without factor V Leiden did not differ with regard to mortality, portosytemic shunting, or listing for liver transplantation. Hepatocellular carcinoma developed in two patients; both had factor V Leiden and indolent obstruction of the inferior vena cava. CONCLUSIONS In patients with Budd-Chiari syndrome, factor V Leiden (a) is common; (b) precipitates thrombosis mostly when combined with another risk factor; (c) is associated with one of two contrasting clinical pictures: indolent thrombosis—particularly of the inferior vena cava—or massive ischaemic necrosis; and (d) is a major cofactor of Budd-Chiari syndrome developing during pregnancy.