Hereditary Hemorrhagic Telangiectasia - Early Childhood Presentation with Hepatic Failure

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia in which capillary bed is absent with direct draining of arterial blood into venous circulation. Due to increased pressure there is increased risk of bleeding. The classical triad consists of telangiectasias, epistaxis and a positive family history. This defect can involve any organ system, especially lungs, brain and liver; but hepatic vascular malformations in HHT usually remain silent until fifth or sixth decade of life. However, if symptomatic, it usually results in only mild liver dysfunction in adults. Herein, we report a rare case showing extensive hepatic involvement in HHT leading to hepatic failure at a younger age. Hepatic screening is traditionally not recommended at early age while pulmonary and cerebral screening must be done. Based on this case, we recommend hepatic screening even in a young patient with HHT.