OBJECTIVES: We report the Belgian Registry of 30 patients (19 women and 11 men) with hereditary haemorrhagic telangiectasia (HHT) and liver involvement.
RESULTS: Twenty-three patients (77%) were asymptomatic. Within the seven symptomatic patients (23%), four suffered from high output cardiac failure, two died before liver transplantation and one was transplanted. Three patients developed symptomatic biliary disease, two were transplanted and one was listed. Intrahepatic shunts and a large hepatic artery (6-14 mm, mean: 9.3 mm) were found in all patients and are characteristic of liver involvement. We observed a high prevalence (47%) of asymptomatic hepatic tumours with radiological and histological characteristics of focal nodular hyperplasia (FNH) for the majority of these tumours. The histological examination of the three explanted livers revealed the coexistence of a large spectrum of hepatic vascular lesions including intrahepatic shunts, FNH, nodular regenerative hyperplasia, sinusoidal dilatation and ischaemic cholangiopathy. All these lesions should be diagnosed early to avoid invasive procedures even if a liver biopsy was performed in six of our patients without complications. The liver biopsy led to the diagnosis of HHT in one patient and to FNH in another one.
CONCLUSION: Liver involvement in HHT is characterized by a high prevalence of FNH and a large spectrum of vascular lesions such as intrahepatic shunts, nodular regenerative hyperplasia, sinusoidal dilatation and ischaemic cholangiopathy that may coexist simultaneously in the same patient.