Hepatic involvement in hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler Weber syndrome.

Background And Study Aims: Hepatic involvement in hereditary hemorrhagic telangiectasia (HHT) is usually asymptomatic and does not require treatment. However, when present, clinical manifestations can cause considerable morbidity and mortality. Current expertise in the variable clinical manifestations and recommendations for diagnostic approach and management of hepatic involvement in HHT are outlined.

Methods And Materials: A review of current literature was performed using the MEDLINE search string: "Hereditary hemorrhagic telangiectasia [ALL] OR Rendu-Osler-Weber [ALL] AND (liver OR hepatic [ALL])".

Results: Due to the lack of therapeutic consequence, systematic screening for hepatic involvement in asymptomatic patients with HHT is currently not recommended. In symptomatic patients, diagnostic tools include non-invasive techniques such as abdominal color Doppler ultrasound, CT and/or MRI. In any case, liver biopsy should be avoided in patients with suspected HHT because of the high bleeding risk. Liver transplantation is currently the only curative option for symptomatic hepatic involvement in HHT. Except for biliary or hepatocellular necrosis, which require urgent liver transplantation, consensus on the most appropriate timing of transplantation is lacking. Recent studies have shown a promising role for angiogenesis inhibitors as a causative treatment for hepatic involvement in HHT and its complications.

Conclusions: Identification of specific risk factors for progression to the symptomatic phase is one of the main future challenges. This would subsequently allow for individualized and cost-effective screening of high-risk patients when they are still in the asymptomatic stage. However, until then screening in asymptomatic patients is not recommended. Additionally the effect of preventive measures in this high-risk population on the development of symptomatic liver involvement and on poor outcome should be established.