Severe hepatic involvement in hereditary hemorrhagic telangiectasia (osler weber rendu syndrome)

Abstract

The Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu-Osler-Weber syndrome is a vascular dysplasia with dominant autosomal inheritance, featuring mucocutaneous telangiectases and vascular malformations in organs such as the brain, lungs, liver and digestive tract. Its prevalence is calculated in 1-5000/8000. Arteriovenous and portovenous hepatic fistulas might lead to high output cardiac failure with secondary pulmonary hypertension, portal hypertension and biliary tree ischemia. HHT patients with hepatic involvement may experience upper-right cuadrant abdominal pain, ascites or abnormal liver function test. The liver Doppler ultrasound and enhanced multislice angiotomography represent the gold standard for the HHT hepatic assessment. The treatment might be pharmacological or require transplantation in grave cases. The embolization of hepatic fistulas is prescribed for selected and extreme cases, presenting great morbimortality. Bevacizumab seems to be an alternative in the treatment for severe HHT-induced hepatocompromised patients, especially with high output cardiac failure and biliary tree ischemia. Its long-run efficiency and therapeutic scheme have not been assessed yet