Budd-Chiari Syndrome in a Patient with JAK-2 V617F and Factor V G1691A Mutations.

Myeloproliferative neoplasms (MPN) are considered a risk factor for Budd-Chiari syndrome (BCS). The current classification of MPN by the World Health Organization is based on the presence of JAK-2 V617F somatic mutation, which is present in 40 to 60% of patients with BCS. Factor V Leiden mutation is found in around 53% of patients with BCS, representing the most common prothrombotic disease associated with the disorder. We describe a 48-year old woman with a past medical history of deep venous thrombosis in the left upper extremity and one episode in both lower extremities, one episode of transient ischaemic attack and essential thrombocythemia, who presented with jaundice, ascites and hepatomegaly. Budd-Chiari syndrome was diagnosed based on findings on Doppler ultrasound and liver biopsy. Doppler ultrasound showed narrowness of hepatic veins and inferior vena cava in its hepatic portion, diffuse echotexture and portal hypertension. Liver biopsy showed congestion of sinusoids and portal fibrosis. The patient was found to be a heterozygous carrier of Factor V and homozygous wild type G20210A prothrombin mutations. The JAK-2 V617F mutation was detected by allele-specific polymerase chain reaction (AS-PCR). The association of these mutations is rare, with only a few cases reported in the literature. The patient was treated with oral anticoagulation and antiplatelets with good results and proper follow-up. In conclusion, due to the possible coexistence of multiple prothrombotic factors in patients with Budd-Chiari syndrome, the approach to these patients must be focussed on searching for multiple factors and should include the JAK-2 V617F mutation.

[Inadequate function of Oddi's sphincter. Endoscopic treatment and long-term follow up]. / Función inadecuada del esfínter de Oddi. Tratamiento endoscópico y evaluación a largo plazo.

Inadequate function of Oddi sphincter is a clinical entity of difficult diagnosis and controversial treatment. The diagnosis can be suspected by the clinical history, biochemical tests, ultrasonography and endoscopy but can only be proved by manometry. We studied 35 patients, 23 women and 12 men with a mean age of 56.4 years. They were all cholecystectomized and had pain as before they were operated. 33 had elevation of alkaline phosphatase all of them had dilatation of the main bile duct over 12 mm and delayed contrast emptying over a 45 minutes period. Manometry demonstrated high pressure of Oddi sphincter above 30 mmHg. We performed endoscopic sphincterotomy in all cases without complications. We did a clinical, biochemical and endoscopic evaluation every 3 months during the first year and every 6 months during the second and third year. Thirty one patients (81.6%) remained asymptomatic after the procedure, with improvement of the biochemical tests in all cases. We concluded that endoscopic sphincterotomy is a good alternative in the management of these patients.