alpha 1-Antitrypsin deficiency-associated liver disease progresses slowly in some children

Background: A prospective nationwide screening study initiated more than 20 years ago in Sweden has shown that clinically significant Liver disease de velops in only 10% to 15% of alpha 1-antitrypsin (AT)-deficient children. T his study provides information about 85% to 90% of those children, many of whom had elevated serum transaminases in infancy but have no evidence of li ver injury by age 18 years. However, there is relatively Limited informatio n about the course of alpha 1-AT-deficient children who have cirrhosis or p ortal hypertension. Based on several anecdotal experiences, we have been im pressed by the relatively slow progression and stable course of the liver d isease in some of these children. Methods: We reviewed the course of patients with homozygous PIZZ alpha 1-an titrypsin deficiency seen at this institution since establishing a patient database 16 years ago. Results: Of 44 patients with alpha 1-AT deficiency, 17 had cirrhosis, porta l hypertension, or both. Nine of the 17 patients with cirrhosis or portal h ypertension had a prolonged, relatively uneventful course for at least 4 ye ars after the diagnosis of cirrhosis or portal hypertension. Two of these p atients eventually underwent Liver transplantation, but seven are leading r elatively healthy lives for up to 23 years while carrying a diagnosis of se vere alpha 1-AT deficiency-associated liver disease. Patients with the prol onged stable course could be distinguished from those with a rapidly progre ssive course on the basis of overall life functioning but not on the basis of any other more conventional clinical or biochemical criteria. Conclusions: These data provide further evidence for the variable severity of liver disease associated with alpha 1-AT deficiency and indicate that so me patients have chronic, slowly progressing or nonprogressing cirrhosis.