title: Ataxia-telangiectasia and hepatocellular carcinoma.
abstract: Ataxia-telangiectasia (AT) is a multi-system disease involving the cerebellum, cutaneous blood vessels and the immune system including both cellular and humoral components. It also involves hematological, endocrine and peripheral nervous systems. This disease is often associated with abnormal liver function tests, such as, raised alkaline phosphatase and various nonspecific histological changes in the liver. High incidence of various malignancies involving lymphoreticular, gastrointestinal and mesenchymal organs have reported in ataxia-telangiectasia. Elevated levels of alpha fetoprotein have been noted commonly in this disorder. In spite of the hepatic histological and biochemical changes associated with elevated alpha fetoprotein, to our knowledge, development of hepatocellular carcinoma has not been reported in patients with ataxia-telangiectasia. A case of a young white female with AT who developed hepatocellular carcinoma along with significantly elevated levels of alpha fetoprotein is presented.
mesh_terms: D000328:Adult; D001260:Ataxia Telangiectasia / Q000097:blood / Q000150:complications* / Q000235:genetics; D006528:Carcinoma, Hepatocellular / Q000097:blood / Q000150:complications*; D005260:Female; D006801:Humans; D008113:Liver Neoplasms / Q000097:blood / Q000150:complications*; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: D000509:alpha-Fetoproteins