Children may present with jaundice and recover completely or progress to cirrhosisCirrhosis is a condition (not a disease) that results from permanent damage or scarring of the liver. Source: Canadian Liver Foundation.
Liver Test Results Do Not Identify Liver Disease in Adults with α-1 Antitrypsin Deficiency – Published online 2012 Jul 24 – National Center for Biotechnology Information
Within the first 6 months of life, more than 50% of PI*ZZ children had either clinical signs of liver disease or abnormal LFTs. By adolescence, the majority of those followed had normal aminotransferase levels and no clinical signs of liver disease.
Liver Test Results Do Not Identify Liver Disease in Adults with α-1 Antitrypsin Deficiency – Published online 2012 Jul 24 – National Center for Biotechnology Information
Some studies have shown that many individuals with Alpha-1 had abnormal liver function tests during their infancy. These tests are rarely performed in newborns, however, and therefore it is difficult to know what percentage of Alpha-1 infants may actually have abnormal liver test results. Fortunately, almost all of the babies who have
Big Fat Reference Guide – AlphaNetabnormal liver function during their infancy havenormal liver function by the time they are two years old. The small number of infants who developsevere liver disease are recognized quickly as having Alpha-1.
For unknown reasons, only 15 per cent people with alpha-1 antitrypsin deficiency will show signs of liver disease in childhood. Of that group, about half will recover but they continue to be deficient in alpha-1 antitrypsin, putting them at risk for future complications of the disease, including lung, liver and skin disease in adulthood. The remaining 50 per cent of these children will develop worsening liver fibrosis and are at risk of liver cirrhosis and liver failure during childhood.
Alpha-1 Antitrypsin Deficiency – Canadian Liver Foundation
Risk of life threatening liver disease in childhood is about <5%.
Risk of any liver disease or dysfunction in childhood is 15-50% (depending on how it is tested).
The majority (80%?) of ZZ infants with problems at birth are well, without transplant, at age 18y.
Asthma, but not emphysemaObstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed., is seen in children.
This was roughly transcribed from a talkDr. Jeffery Teckman gave at the 2019 St. Louis Alpha-1 Education Day – https://www.facebook.com/Alpha1Foundation/videos/392606564894061/
Alpha (1)-antitrypsin deficiency is a common genetic disease in which individuals homozygous for the mutant Z allele are at risk for the development of liver disease and emphysema…
PubMed.gov – Dr. J Teckman
The heterozygous carrierAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. state for the mutant Z gene, present in 1.5% to 3% of the population, is not itself a common cause of liver injury but may be a modifier gene for other liver diseases.