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. 2001 Feb;48(2):264–268. doi: 10.1136/gut.48.2.264

Factor V Leiden related Budd-Chiari syndrome

P Deltenre 1, M Denninger 1, S Hillaire 1, M Guillin 1, N Casadevall 1, J Briere 1, S Erlinger 1, D Valla 1
PMCID: PMC1728208  PMID: 11156651

Abstract

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.


Keywords: thrombophilia; Budd-Chiari syndrome; inferior vena cava obstruction; myeloproliferative disorders; ischaemic necrosis

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Figure 1  .

Figure 1  

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Serum alanine aminotransferase (ALT) activity at the time of presentation in 63 patients with Budd-Chiari syndrome due to hepatic vein or inferior vena cava thrombosis according to the presence or absence of factor V Leiden mutation (each bar represents an individual value).

Selected References

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