Severe Hepatopulmonary Syndrome in an Adolescent Patient with Non-Cirrhotic Portal Fibrosis

A 17-year-old male presented with progressive splenomegaly since age 7 years, recurrent epistaxis and skin bleeds for the last 5 years, and worsening dyspnoea (initially on exertion progressing to symptoms at rest) for the last 3 years. Examination showed evidence of hypoxemia (blood oxygen saturation on room air, 70%; on 3 L/min oxygen, 92%, with orthodeoxia), clubbing, peripheral cyanosis, petechiae, and massive splenomegaly. Investigations revealed evidence of hypersplenism and normal hepatic synthetic functions. Work-up for known etiologies of chronic liver disease was negative. Liver biopsy showed maintained liver architecture with obliterative portal venopathy suggestive of non-cirrhotic portal fibrosis (NCPF). There was evidence of severe hepatopulmonary syndrome (HPS), including severe shunting on saline contrast echocardiography, arterial hypoxemia of PaO2 49 mm Hg, alveolar-arterial PO2 gradient 60 mm Hg, and macro-aggregated albumin perfusion lung scan showing brain uptake of 25.4% (Figure 1). Pulmonary angiography revealed increased vessel density in the bilateral pulmonary parenchyma with hypertrophied and tortuous bronchial arteries but no obvious intrapulmonary shunting (Figure 1). He was managed conservatively with continuous oxygen therapy and pentoxiphylline. The need for liver transplantation as a definitive management was explained to the family.