Liver involvement in hereditary hemorrhagic telangiectasia (HHT).
Liver involvement in hereditary hemorrhagic telangiectasia (HHT) consists of extensive intrahepatic vascular malformations associated with blood shunting (arteriovenous, arterioportal and/or portovenous). It is a rare disorder that nevertheless can result in significant systemic and hepatobiliary abnormalities. Although hepatic vascular malformations are present in a majority of patients with HHT, symptoms occur in a only a minority with a clear predominance for the female gender. Symptoms from liver vascular malformations are often misdiagnosed and this can lead to potentially harmful interventions. In this review article, clinical findings of liver involvement in HHT and their pathophysiology are discussed as well as diagnostic methodologies, therapies used and their outcome. Data presented is based on a review of the literature performed in October 2006 using the following MEDLINE search terms: (hereditary hemorrhagic telangiectasia [ALL] OR Rendu-Osler-Weber [ALL]) AND (liver OR hepatic [ALL]). Papers were considered if they were published in English and if they included specific cases that were sufficiently described.
Garcia-Tsao
Guadalupe
G
Department of Internal Medicine, Section of Digestive Diseases, Yale University School of Medicine and VA CT Healthcare System, 333 Cedar Street - 1080 LMP, P.O. Box 208019, New Haven, CT 06520, USA. guadalupe.garcia-tsao@yale.edu
D001660:Biliary Tract Diseases / Q000209:etiology / Q000503:physiopathology; D002303:Cardiac Output, Low / Q000209:etiology / Q000503:physiopathology; D005260:Female; D020518:Focal Nodular Hyperplasia / Q000209:etiology / Q000503:physiopathology; D006501:Hepatic Encephalopathy / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D006975:Hypertension, Portal / Q000209:etiology / Q000503:physiopathology; D008099:Liver / Q000098:blood supply* / Q000503:physiopathology*; D008297:Male; D012727:Sex Characteristics; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*