Osler-Weber-Rendu Syndrome as a Rare Cause of Liver Cirrhosis

It is essential to comprehend the clinical manifestations of hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome. This autosomal dominant vascular disorder presents with distinct symptoms, including mucocutaneous telangiectasia, epistaxis, gastrointestinal bleeding, and iron deficiency anemia. Furthermore, arteriovenous malformations (AVMs) commonly occur in the pulmonary, hepatic, and cerebral circulations. Hepatic involvement may be uncommon, depending on the subtype of HHT. HHT is a rare cause of liver cirrhosis. We present the case of a 59-year-old female patient referred to a hepatology consultation for the etiological study of liver disease that progressed to liver cirrhosis. From the study carried out, the presence of hepatic arteriovenous shunt was detected, which raised the suspicion of HHT, with the genetic study confirming the diagnosis. In this case, we intend to demonstrate the diagnostic difficulty of this entity, which led to a long time between the initial manifestation and the diagnostic conclusion. We would also like to highlight the importance of imaging and genetic studies in determining the etiology of the disease.