AI Article Synopsis
- Primary biliary cirrhosis is a rare autoimmune liver disease primarily affecting middle-aged women, with a prevalence of 6.7 to 402 cases per million.
- Hereditary hemorrhagic telangiectasia is another rare genetic disorder that causes abnormal blood vessel formation, with a prevalence of 1-2 cases per 10,000.
- This text discusses the rare coexistence of both conditions in a 50-year-old woman, highlighting the importance of detailed medical history, liver histology, and imaging techniques for proper diagnosis and management.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664287 | PMC |
| http://dx.doi.org/10.4254/wjh.v5.i5.288 | DOI Listing |
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