Budd-Chiari syndrome related to factor V Leiden mutation.
We here describe a young patient who presented with chronic Budd-Chiari syndrome. An exhaustive etiological investigation to detect a procoagulable state was negative except for factor V mutation (factor V Leiden), a factor associated with resistance to activated protein C. Factor V Leiden is known to be a common, high risk factor for thrombosis. This factor should be routinely investigated in patients with Budd-Chiari syndrome, as factor V Leiden mutation is probably the procoagulable state responsible for many cases of "idiopathic" Budd-Chiari syndrome.
Delarive
J
J
University Hospital (CHUV)/University Medical Outpatients Department (PMU), Lausanne, Switzerland.
Gonvers
J J
JJ
D000328:Adult; D006502:Budd-Chiari Syndrome / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation
C095381:factor V Leiden; D005165:Factor V