Publication:

A tale of two entities: a rare presentation of hepatopulmonary syndrome associated with non-cirrhotic portal fibrosis

Hepatopulmonary syndrome (HPS) is traditionally associated with cirrhosis and advanced chronic liver disease, whereas its occurrence in non-cirrhotic portal fibrosis (NCPF) is distinctly uncommon. We report a 21-year-old woman with NCPF, portal hypertension, and autoimmune hemolytic anemia who presented with progressive dyspnea, fatigue, and dry cough. Examination revealed clubbing and marked orthodeoxia, with oxygen saturation decreasing from 89% supine to 81% upright. Room-air arterial blood gas analysis showed a PaO₂ of 71.9 mmHg with hypocapnia. Contrast-enhanced echocardiography demonstrated delayed microbubble transit into the left atrium via the pulmonary veins, confirming an intrapulmonary right-to-left shunt consistent with HPS. Abdominal imaging demonstrated non-cirrhotic portal hypertension (NCPH) with periportal fibrosis, splenomegaly, and extensive portosystemic collaterals, with preserved hepatic function. The patient underwent right-lobe living-donor liver transplantation and subsequently showed marked clinical and respiratory improvement. This case highlights that HPS may develop in NCPF despite preserved hepatic function and underscores the diagnostic importance of orthodeoxia and intrapulmonary shunting in unexplained hypoxemia.