Hereditary hemorrhagic telangiectasia

Case contributed by Assis Prof Faeze Salahshour

Presentation

The patient had a history of progressive limb edema and dyspnea in late pregnancy a few years ago, which lead to a period of coma post-delivery. After recovery, a type of chronic liver disease was confirmed. She underwent conservative management and was referred to our center for liver transplantation.

Patient Data

Age: 30 years
Gender: Female

Multiple ill-defined small arterial hyper-enhancing foci throughout the enlarged liver. Early opacification of the intrahepatic portal vein branches in the arterial phase favors arterioportal shunting. Evidence of cirrhosis and portal hypertension are visible as mild liver surface irregularity, ascites, splenomegaly, and small omental collaterals. The common hepatic artery is hypertrophied and the aorta becomes small below the celiac trunk.

DSA (angiography)

Hypertrophied hepatic artery and multiple small arterioportal shunts are visible through the liver.

Case Discussion

Findings are typical for hereditary hemorrhagic telangiectasia syndrome with arterioportal shunting. This type usually leads to portal hypertension and heart failure. In contrast, the type with dominant shunting between hepatic arteries and hepatic veins may lead to bile duct wall ischemia with biloma formation.

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Case information

rID: 83692
Published: 16th Nov 2020
Last edited: 20th Nov 2020
Inclusion in quiz mode: Included
Institution: Tehran University of Medical Sciences (TUMS)