Alpha-1-antitrypsin deficiency, mitochondrial antibodies and possible primary biliary cirrhosis. A case report and family study.

A case of a 70-year-old woman with a history of gastric ulcer and several pneumonias is presented. She was found to have pulmonary emphysema, severe alpha-1-antitrypsin (alpha1AT) deficiency and raised serum mitochondrial antibodies. Surgical liver biopsy showed portal liver cirrhosis, PAS-positive, diastaseresistant globules in the hepatocytes and changes interpreted as florid duct lesion of primary biliary cirrhosis. A brother has severe alpha1AT deficiency. Two daughters had raised mitochondrial antibodies. One of the latter had a granulomatous hepatitis, a common finding in primary biliary cirrhosis. The association of alpha1AT deficiency and primary biliary cirrhosis does not seem to have been described previously.