Non-cirrhotic portal fibrosis associated with pulmonary arteriovenous communication and pulmonary arterial hypertension.

A case of non-cirrhotic portal fibrosis associated with pulmonary arteriovenous communication and pulmonary arterial hypertension is reported. The patient was a 7-year old boy who presented with hematemesis, cyanosis, hypoxemia and orthodeoxia. His liver pathology was compatible with non-cirrhotic portal fibrosis. His pulmonary angiography showed arteriovenous shunting and pulmonary arterial hypertension (mean pulmonary artery pressure 34 mmHg). His sister also had non-cirrhotic portal fibrosis with neither hypoxemia nor orthodeoxia. This report raises the possibility of non-cirrhotic portal fibrosis having a genetic etiology.