Late manifestation of chronic liver disease in adults with alpha-1-antitrypsin deficiency

A review of 19 adult patients with alpha-1-antitrypsin deficiency (A₁AT deficiency) and chronic liver disease revealed a late onset of symptomatic hepatic abnormalities in this condition. Thirteen patients (68%) were 60 years or older when the liver disease was discovered. The mean age of the patients with the ZZ, SZ, and MZ phenotypes was 58, 66, and 72.5 years, respectively; this suggested a later onset of the liver disease in the heterozygotes. At the time of diagnosis, the hepatic condition usually was advanced; in eight patients (42%) the survival was less than two years. The most important associated condition was chronic obstructuve lung disease which was found in 10 patients (53%). We conclude that advanced age and the high incidence of obstructive lung disease make it unlikely that liver transplantation will become a common therapeutic option for adult patients with A₁AT deficiency and associated liver disease. Periodic screening of liver function may be indicated in patients with A₁AT deficiency so that chronic liver disease can be diagnosed early, particularly if current attempts to develop effective medical therapy for this condition are successful.