Alpha 1-antitrypsin deficiency and liver cirrhosis in adults. An analysis of 35 Swedish autopsied cases.

Abstract

alpha 1-Antitrypsin (AAT) deficiency in adults predisposes to lung and liver disease, but its natural history is incompletely known. To better characterize the liver disease, all known deceased adult Swedish patients known to us with homozygous (PiZZ) AAT-deficiency, who had undergone autopsy during the 20-year period 1963-82 were reviewed. Of 94 such patients, 35 had cirrhosis (27 males and eight females) with a mean age at death of 65.5 +/- 10.5 (SD) years compared to 53.6 +/- 12.8 years (p less than 0.01) for the 59 non-cirrhotic patients. The longer survival suggests less severe lung disease in the cirrhotic group. Clinically these patients most frequently presented with ascites or other signs of portal hypertension. Evidence of alcohol overconsumption, chronic viral hepatitis, or autoimmune disease was rare. Aside from low plasma AAT levels, laboratory and other clinical features were indistinguishable from those of decompensated cirrhosis of any etiology. The prognosis was generally grave with a mean survival of two years after diagnosis. Fourteen of the 35 cirrhotics (10 males and four females) had primary liver cancer (PLC) at autopsy. We conclude that cirrhosis and PLC are more frequent complications in elderly patients with AAT-deficiency than was previously known. These complications had a marked male predominance.