engleski

Abernethy syndrome type 1b in a young male presenting with acute gastrointestinal bleeding: a case report

Introduction: Abernethy syndrome is a rare congenital extrahepatic portosystemic shunt (CEPS) in which splanchnic blood flows straightly into the inferior vena cava (IVC). Compared to type 1, in which the intrahepatic portal tree is not developed, in type 2 the portal vein is intact, but forms an anastomosis with the IVC. In the subtype 1a, superior mesenteric and splenic veins do not merge into the portal vein, while in type 1b they anatomically form the portal vein. CEPS can cause a wide spectrum of clinical manifestations including hepatic, pulmonary, metabolic and neurological symptoms and is usually diagnosed before adulthood. The diagnosis is established using the radiological imaging methods. While liver transplantation is the treatment of choice for type 1, surgical or minimally invasive endovascular shunt closure are treatment options for type 2 Abernethy syndome. Case report: We are reporting a case of a 34-year- old male Caucasian patient that was admitted to the Department of gastroenterology and hepatology due to gastrointestinal bleeding from the Forrest Ib gastric ulcer. Diagnostic work-up revealed fibrosis of the liver as well as the existence of a congenital portocaval shunt without formed intrahepatic portal branches. He was diagnosed with the Abernethy syndrome type 1b. The anatomy of the hepatic veins was also abnormal, since they were shrinking towards the hilus of the liver and drained from there into the superior vena cava. Laboratory parameters revealed slight impairment of liver function and high ammonia levels with covert hepatic encephalopathy. The patient is currently under conservative treatment and strict follow-up, as a potential candidate for liver transplantation management. Conclusion: Altough a rare condition, Abernethy syndrome must be included in the differential diagnosis of patients presenting with hepatopulmonary sindrom, hypergalactosemia, gastrointestinal bleeding and hyperammonemia. The patients should be given the adequate treatment determined on individual basis and initiated with the appropriate timing.

Abernethy syndrome ; congenital extrahepatic porto-systemic shunt ; gastrointestinal bleeding ; hyperammonemia ;

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