What are the symptoms of liver disease due to alpha-1 antitrypsin deficiency?
The affected child usually presents with jaundice at a few weeks of age with enlargement of the liver and spleen and with abnormal liver function tests. A biopsy of the liver will show evidence of the stored abnormal protein and a variable degree of liver damage. If the function tests are only moderately abnormal and the biopsy does not show extensive damage, it is probable that recovery will occur and usually the infant is back to normal health by six to nine months of age. If recovery fails, then progressive liver disease results in liver failure at some point during the first ten years of life. On very rare occasions, liver disease may not be evident until the child is several years of age or even until middle age. How is alpha-1 antitrypsin deficiency diagnosed? A diagnosis is established by demonstrating a very low level of alpha1 antitrypsin in the blood and by identifying the abnormal protein by specific testing. In normal individuals the protein is called “M” and in the deficie
