Subacute Budd-Chiari syndrome associated with polycythemia vera and factor V Leiden mutation.
We describe a 48-year-old caucasian woman with a subacute Budd-Chiari syndrome attributed to the presence of polycythaemia vera, heterozygosity for the factor V Leiden mutation and the use of an oral contraceptive pill. Two diagnostic pitfalls were encountered. First, on CT scanning of the abdomen the still normally vascularized central part of the liver was initially judged as a hypervascular tumour. Second, there was difficulty to recognize the thrombocytosis/leukocytosis in relation with portal hypertension and hypersplenism. Our case illustrates the obstacles which can be faced during the diagnostical process in a subacute form of Budd-Chiari syndrome. Furthermore, our case illustrates the need for routinely screening of the factor V Leiden mutation in patients with Budd-Chiari syndrome.
Simsek
S
S
Department of Gastroenterology and Hepatology, Medical Centre Alkmaar, The Netherlands. simsek@azvu.nl
Verheesen
R V
RV
Haagsma
E B
EB
Lourens
J
J
D000208:Acute Disease; D001201:Ascites / Q000209:etiology; D006502:Budd-Chiari Syndrome / Q000150:complications / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics* / Q000601:surgery; D003276:Contraceptives, Oral / Q000009:adverse effects; D003937:Diagnosis, Differential; D005165:Factor V / Q000235:genetics*; D005260:Female; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D008099:Liver / Q000473:pathology / Q000601:surgery; D008113:Liver Neoplasms / Q000175:diagnosis; D008875:Middle Aged; D009154:Mutation; D011087:Polycythemia Vera / Q000150:complications* / Q000235:genetics; D019168:Portasystemic Shunt, Transjugular Intrahepatic; D013163:Splenomegaly / Q000209:etiology; D016896:Treatment Outcome
D003276:Contraceptives, Oral; C095381:factor V Leiden; D005165:Factor V