Budd-Chiari syndrome (BDCHS) is a heterogeneous group of disorders characterized by hepatic venous outflow obstruction at the hepatic veins or inferior vena cava. Clinically, the disease is characterized by hepatomegaly, manifestations of portal hypertension, and sometimes rapidly deteriorating liver function. Factors that confer a predisposition to the development of the Budd-Chiari syndrome, including hypercoagulable states, both hereditary and acquired, and a variety of other causes, can be identified in about 75 percent of patients. The factor V Leiden mutation and V617F mutation in the JAK2 gene have been noted in patients with the Budd-Chiari syndrome.
Category
Digestive system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
13 Diseases of the digestive system
Diseases of liver
DB98 Vascular disorders of the liver
H01433 Budd-Chiari syndrome
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06514 Coagulation cascade
H01433 Budd-Chiari syndrome
Janssen HL, Meinardi JR, Vleggaar FP, van Uum SH, Haagsma EB, van Der Meer FJ, van Hattum J, Chamuleau RA, Adang RP, Vandenbroucke JP, van Hoek B, Rosendaal FR
Title
Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study.
