Liver involvement in hereditary hemorrhagic telangiectasia (HHT). 2007

Guadalupe Garcia-Tsao
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

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.

UI MeSH Term Description Entries
D006975 Hypertension, Portal Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN. Cruveilhier-Baumgarten Disease,Cruveilhier-Baumgarten Syndrome,Cruveilhier Baumgarten Disease,Cruveilhier Baumgarten Syndrome,Disease, Cruveilhier-Baumgarten,Portal Hypertension,Portal Hypertensions,Syndrome, Cruveilhier-Baumgarten
D008099 Liver A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances. Livers
D008297 Male Males
D002303 Cardiac Output, Low A state of subnormal or depressed cardiac output at rest or during stress. It is a characteristic of CARDIOVASCULAR DISEASES, including congenital, valvular, rheumatic, hypertensive, coronary, and cardiomyopathic. The serious form of low cardiac output is characterized by marked reduction in STROKE VOLUME, and systemic vasoconstriction resulting in cold, pale, and sometimes cyanotic extremities. Low Cardiac Output,Low Cardiac Output Syndrome,Output, Low Cardiac
D005260 Female Females
D006501 Hepatic Encephalopathy A syndrome characterized by central nervous system dysfunction in association with LIVER FAILURE, including portal-systemic shunts. Clinical features include lethargy and CONFUSION (frequently progressing to COMA); ASTERIXIS; NYSTAGMUS, PATHOLOGIC; brisk oculovestibular reflexes; decorticate and decerebrate posturing; MUSCLE SPASTICITY; and bilateral extensor plantar reflexes (see REFLEX, BABINSKI). ELECTROENCEPHALOGRAPHY may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5) Encephalopathy, Hepatic,Portosystemic Encephalopathy,Encephalopathy, Hepatocerebral,Encephalopathy, Portal-Systemic,Encephalopathy, Portosystemic,Fulminant Hepatic Failure with Cerebral Edema,Hepatic Coma,Hepatic Stupor,Hepatocerebral Encephalopathy,Portal-Systemic Encephalopathy,Coma, Hepatic,Comas, Hepatic,Encephalopathies, Hepatic,Encephalopathies, Hepatocerebral,Encephalopathies, Portal-Systemic,Encephalopathies, Portosystemic,Encephalopathy, Portal Systemic,Hepatic Comas,Hepatic Encephalopathies,Hepatic Stupors,Hepatocerebral Encephalopathies,Portal Systemic Encephalopathy,Portal-Systemic Encephalopathies,Portosystemic Encephalopathies,Stupor, Hepatic,Stupors, Hepatic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001660 Biliary Tract Diseases Diseases in any part of the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER. Biliary Tract Disease,Disease, Biliary Tract,Diseases, Biliary Tract,Tract Disease, Biliary,Tract Diseases, Biliary
D012727 Sex Characteristics Those characteristics that distinguish one SEX from the other. The primary sex characteristics are the OVARIES and TESTES and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction. Gender Characteristics,Gender Differences,Gender Dimorphism,Sex Differences,Sex Dimorphism,Sexual Dichromatism,Sexual Dimorphism,Characteristic, Gender,Characteristic, Sex,Dichromatism, Sexual,Dichromatisms, Sexual,Difference, Sex,Dimorphism, Gender,Dimorphism, Sex,Dimorphism, Sexual,Gender Characteristic,Gender Difference,Gender Dimorphisms,Sex Characteristic,Sex Difference,Sex Dimorphisms,Sexual Dichromatisms,Sexual Dimorphisms
D013683 Telangiectasia, Hereditary Hemorrhagic An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA. Osler-Rendu Disease,Rendu-Osler-Weber Disease,Weber-Osler Disease,Weber-Osler Syndrome,Hereditary Hemorrhagic Telangiectasia,Osler's Disease,Osler-Rendu-Weber Disease,Osler-Weber-Rendu Syndrome,Telangiectasia, Hereditary Hemorrhagic, Type 1,Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber,Hemorrhagic Telangiectasia, Hereditary,Osler Disease,Osler Rendu Disease,Osler Rendu Weber Disease,Osler Weber Rendu Syndrome,Rendu Osler Weber Disease,Weber Osler Disease,Weber Osler Syndrome

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