Liver and intrahepatic bile ducts - Tumor
Hereditary hemorrhagic telangiectasia
Reviewers: Deepali Jain, M.D. (see Reviewers page)
Revised: 9 January 2013, last major update February 2012
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● Also called Osler-Weber-Rendu syndrome
● Autosomal dominant disorder with systemic fibrovascular dysplasia (Arch Pathol Lab Med 2001;125:1219)
● Prevalence of 10-20 per 100,000 population
● Caused by HHT1 (encodes endoglin on #9, expressed in central vein endothelium of normal liver) and HHT2 (encodes activin receptor-like kinase 1 / ALK1 on #12)
● Usually asymptomatic, symptomatic liver involvement in neonates (Pediatrics 2011;127:e1615)
● 3 clinical subtypes including high-output cardiac failure, portal hypertension, or biliary disease
● High prevalence of focal nodular hyperplasia (FNH), nodular regenerative hyperplasia (NRH), intrahepatic shunts, ischemic cholangiopathy and sinusoidal dilatation (Eur J Gastroenterol Hepatol 22:1253)
● May have hepatic vascular shunts that may cause high output congestive heart failure, portovenous shunts that cause hepatic encephalopathy or arterioportal shunts that cause portal hypertension
● 56 year old woman with pulmonary hypertension and intractable pulmonary bleeding (due to pulmonary capillary hemangiomatosis) and GI bleeding (Hum Pathol 2004;35:266)
● Telangiectatic lesions throughout liver
● Primary abnormality is thought to be dilatation of intrahepatic arteries
● Dilated vascular spaces lined by normal endothelial cells are surrounded by fibrous stroma
● Characteristic periportal telangiectasia, focal sinusoidal ectasia, abnormal direct communications between hepatic arterial branches and ectatic sinusoids (AV shunts), frequent and large communications between portal and central veins through ectatic sinusoids (portovenous shunts)
● May have nodular transformation of liver
● Necrosis due to rupture of telangiectasia (acute hepatic disruption), in late stages due to abnormal hepatic vascularisation
Dilated arteries, vein and sinusoids
End of Liver and intrahepatic bile ducts - Tumor > Benign tumors > Hereditary hemorrhagic telangiectasia
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