Case Report
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World J Hepatol. May 27, 2013; 5(5): 288-291
Published online May 27, 2013. doi: 10.4254/wjh.v5.i5.288
Primary biliary cirrhosis and hereditary hemorrhagic telangiectasia: When two rare diseases coexist
Fabio Salvatore Macaluso, Marcello Maida, Nicola Alessi, Giuseppe Cabibbo, Daniela Cabibi
Fabio Salvatore Macaluso, Marcello Maida, Nicola Alessi, Giuseppe Cabibbo, Section of Gastroenterology, DIBIMIS, University of Palermo, 90127 Palermo, Italy
Daniela Cabibi, Department of Human Pathology, University of Palermo, 90127 Palermo, Italy
Author contributions: Macaluso FS, Maida M, Alessi N and Cabibbo G contributed to clinical management and writing of the case report; Cabibbi D contributed to diagnosis; all authors had full control over preparation of manuscript; all authors approved the final draft manuscript.
Correspondence to: Giuseppe Cabibbo, MD, PhD, Section of Gastroenterology, DIBIMIS, University of Palermo, P.zza delle Cliniche 2, 90127 Palermo, Italy. g.cab@libero.it
Telephone: +39-91-6552274 Fax: +39-91-6552156
Received: February 25, 2013
Revised: April 9, 2013
Accepted: April 13, 2013
Published online: May 27, 2013
Processing time: 90 Days and 21.4 Hours
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.