Hereditary hemorrhagic telangiectasia: how to efficiently detect hepatic abnormalities using ultrasonography

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is a multiorgan genetic angiodysplastic affection characterized by visceral vascular malformations. It affects mainly the brains, lungs, gastrointestinal tract, and nasal mucosa. Unlike those organs, hepatic involvement, although very frequently occurring, is insufficiently recognized, mainly because of the complex vascular structure of this organ. Thus, treating HHT patients requires a solid understanding of these hepatic anomalies. It is especially important for any general clinicians to be able to recognize clinical findings in HHT, which leads to a high suspicion of HHT and have an index of suspicion for liver abnormalities of HHT. For this purpose, keen awareness of clinical as well as hepatic sonographic (US) findings is paramount. The aim of this review is to summarize previously reported findings on the hepatic US through a thorough analysis of related articles, and to (a) determine the role of US in the diagnosis of hepatic involvement in HHT patients and (b) propose the most simple and easy way to detect HHT-related abnormalities during routine US examinations. Hepatic US serves to diagnose the detailed complex hepatic changes typical of HHT, and contributes to increased diagnostic confidence of hepatic changes in HHT patients, with the most simple way not to overlook HHT-related abnormalities being to find hepatic artery dilatation.