Hepatic Vascular Remodeling in a Patient with Dyskeratosis Congenita.

Abstract

Telomere biology disorders (TBD), including dyskeratosis congenita (DC), are a group of accelerated aging diseases caused by mutations in genes encoding factors involved in telomere maintenance. Hepatic involvement affects 10-40% of TBD patients with nodular regenerative hyperplasia (NRH) and cirrhosis being the most common hepatic manifestations, both of which can result in portal hypertension (1-3). Lung involvement includes interstitial lung disease (ILD) such as idiopathic pulmonary fibrosis (IPF) and hepatopulmonary syndrome (HPS) which can be associated with portal hypertension. Vascular complications in TBD include pulmonary arteriovenous malformations, gastrointestinal telangiectasias and exudative vitreoretinopathy.