Liver involvement in hereditary hemorrhagic telangiectasia (HHT).
1: J Hepatol. 2007 Jan 2
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.
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.
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Hereditary hemorrhagic telangiectasia.
Peng YF,Chen LK,Chou YH,Chang FC,Hwang SJ.
Department of Family Medicine, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a rare disorder characterized by arteriovenous communications in visceral organs. The diagnosis of HHT consists of recurrent epistaxis, mucocutaneous telangiectasis, visceral vascular lesion and familial occurrence. HHT can be definitely diagnosed with the presence of all these three criteria. The prevalence of liver involvement of HHT was reported to range from 8 to 31%. Herein, we present a 75-year-old male who was diagnosed as having HHT with liver involvement, based on the findings of recurrent epistaxis, mucosal telangiectasis on the lower lip and hepatic arteriovenous malformation. The clinical presentations of this patient are discussed, and the literature is reviewed.
PMID: 12636208 [PubMed - indexed for MEDLINE]