Early-Onset Familial Noncirrhotic Portal Hypertension

A rare genetic hepatic disease characterized by early onset of portal hypertension in the absence of liver cirrhosis, other causes of liver disease, or splanchnic venous thrombosis at some point in the disease process. Consequences include occurrence of hepatosplenomegaly with thrombocytopenia and esophageal varices with potential bleeding. Liver enzymes may be elevated, while liver function is usually normal, and the overall clinical phenotype typically benign.