Alpha-1 antitrypsin deficiency in children – Possible signs of alpha-1-related liver disease include:

• Jaundice
• elevated liver enzymes
• increased blood clotting

Always remember: Jaundice in newborns can have many causes, most of which are harmless. Therefore, measuring the concentration of the protective protein alpha-1-antitrypsin in cases of prolonged jaundice is purely a precautionary measure.

If a certain threshold for the alpha-1 level is not met, further tests are carried out to determine the exact nature of the condition. Important: If your child tests positive, you and other family members should also be tested for alpha-1 antitrypsin deficiency – as it is a hereditary disease.

Unfortunately, there is currently no targeted treatment for liver diseases caused by alpha-1 antitrypsin deficiency. However, the situation is different for alpha-1-related lung diseases: in these cases, adults can benefit from a so-called substitution therapy, in which the missing protective protein is administered intravenously.

Incidentally, most adults with alpha-1 antitrypsin deficiency do not experience any liver-related symptoms. However, there are indications that many adult patients with alpha-1 antitrypsin deficiency also have elevated liver enzyme levels, which may be related to the metabolic disorder.

Liver diseases in childhood – information from the association "Leberkrankes Kind eV" (Child with Liver Disease).