Hepatic involvement in hereditary hemorrhagic telangiectasia: clinical, radiological, and hemodynamic studies of 11 cases.

BACKGROUND

Hepatic involvement in hereditary hemorrhagic telangiectasia (HHT) is infrequent and poorly studied. The aim of this study was to describe the clinical, radiological, and hemodynamic patterns of this involvement.

METHODS

Eleven consecutive patients with HHT and hepatic involvement observed within 12 years were retrospectively studied. They were 8 females and 3 males, mean age, 47.

RESULTS

The patients presented with heart failure (4 cases), hepatomegaly and murmur of the right hypochondrium (7 cases), and digestive hemorrhage (6 cases). Eight patients had anicteric cholestasis. Celiac angiography showed a dilated hepatic artery in 8 cases, disseminated intrahepatic telangiectasias in 10, and early opacification of the hepatic veins in 7. Liver dynamic computed tomography (CT) scan performed in 7 patients allowed the diagnosis of liver involvement in each case. Hemodynamic studies were performed in 5 patients. A left-to-right intrahepatic shunt was proven in the 5 patients. Shunt output was estimated between 25% and 58% of cardiac output. Mild pulmonary hypertension was observed in the 5 cases.

CONCLUSIONS

Diagnosis of liver involvement in HHT can be made by dynamic CT scan or celiac angiography. The main feature of this involvement is high output heart failure due to left-to-right intrahepatic shunt. Thus, right-heart catheterization is necessary in these patients to confirm and evaluate the shunt.