Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is a genetic defect on chromosome 14 that causes the liver either not to produce the protein alpha-1 antitrypsin (AAT) or to produce this substance with errors in the structure of its molecules. These badly formed molecules fold incorrectly and are largely unable to leave the liver.
In contrast to the rest of the body, the problem in the liver is not a lack of but rather an accumulation of abnormally folded protein in the liver cells, and this damages them. In turn, the damaged cells can lead to prolonged jaundice in the new-born or bile stasis or chronic liver disease in children. Affected children often have poor appetite and fail to thrive. Although 10 to 20% of children with alpha-1 antitrypsin deficiency have liver involvement, that figure drops to 2 to 5% with increasing age. However, there are Alpha-1 patients who do not develop any symptoms until adult age. They are then more likely to develop cirrhosis (scarring) or cancer of the liver. As yet there is no specific drug treatment for liver alphas.
Some children with alpha-1 antitrypsin deficiency have damaged livers. The treatment for this condition is highly specialised and there are excellent liver treatment centres for these children. If you have any concerns about your child then seek medical advice.
Sometimes Alpha children have breathing difficulties but these are usually related to other lung diseases and treatments are also available for these. (Replacement therapy is not indicated for these children’s lung complaints.)
This website is run by Alphas and their carers. We do our very best to ensure that all information shown here is up-to-date and accurate. However, you should always consult your own GP or other medical professional if you have the slightest concerns about your health.