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.
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.
Authors: Haneen Sadick; Maliha Sadick; Karl Götte; Ramin Naim; Frank Riedel; Gregor Bran; Karl Hörmann Journal: Wien Klin Wochenschr Date: 2006-03 Impact factor: 1.704
Authors: S A Abdalla; U W Geisthoff; D Bonneau; H Plauchu; J McDonald; S Kennedy; M E Faughnan; M Letarte Journal: J Med Genet Date: 2003-07 Impact factor: 6.318
Authors: Haneen Sadick; Johanna Hage; Ulrich Goessler; Jens Stern-Straeter; Frank Riedel; Karl Hoermann; Peter Bugert Journal: BMC Med Genet Date: 2009-06-09 Impact factor: 2.103