Primary biliary cirrhosis and hereditary hemorrhagic telangiectasia: When two rare diseases coexist

Abstract

Primary biliary cirrhosis is a slowly progressive cholestatic autoimmune liver disease that mainly affects middle-aged women with an estimated prevalence ranging from 6.7 to 402 cases per million. Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber disease, is an autosomal dominant disorder characterized by angiodysplastic lesions (telangiectases and arteriovenous malformations) that can affect many organs, including liver, with a prevalence of 1-2 cases per 10000. We describe the coexistence, for the first time to our knowledge, of these two rare diseases in a 50-year old Caucasian woman. In this setting, the relevance of an accurate medical history, the role of liver histology and the characterization of liver involvement through dynamic imaging techniques can be emphasized.

Keywords: Primary biliary cirrhosis; Hereditary hemorragic telangiectasia; Focal nodular hyperplasia; Ursodeoxycholic acid; Immunostaining

Core tip: This case report shows the coexistence of two rare diseases, primary biliary cirrhosis and hemorrhagic hereditary telangiectasia, in a single patient. We think that this case would be worthwhile to publish because this is the first manuscript, to our knowledge, in which the coexistence of these two rare diseases has been reported. In this setting, the relevance of an accurate medical history, the role of liver histology and the characterization of liver involvement through dynamic imaging techniques can be emphasized.