Review article: the hepatic manifestations of hereditary haemorrhagic telangiectasia

Background Liver involvement in hereditary haemorrhagic telangiectasia is mainly characterized by vascular malformations, such as telangiectasies and arteriovenous shunts, which are found in up to 80% of patients. Aim To analyse the current knowledge and controversies regarding the epidemiological, pathological, clinical, diagnostic and therapeutic aspects of liver involvement in hereditary haemorrhagic telangiectasia. Methods Systematic survey analysis of the indexed studies dealing with the above mentioned topics. Results No more than 8% of patients with hepatic vascular abnormalities will have a symptomatic liver disease, mainly consisting in high-output heart failure, portal hypertension or biliary disease. Conclusions Colour Doppler ultrasonography is a non-invasive, highly accurate and relatively low-cost procedure for the screening of liver involvement in patients with hereditary haemorrhagic telangiectasia; computed tomography, magnetic resonance imaging and angiography can be reserved for the characterization of focal lesions and the study of severely ill patients in whom invasive therapeutic procedures are advisable. Patients with asymptomatic liver involvement should not receive any treatment, while the therapeutic options for symptomatic patients include treatment of the specific complication, invasive procedures for shunt reduction and liver transplantation. The newly developed antiangiogenetic therapies appear to be very promising, but still require further evaluation in clinical trials.