In some children, the signs of alpha-1 antitrypsin deficiency do not become apparent until early childhood or adolescence when they may develop hepatitis, enlarged spleen, ascites, pruritus and other signs of liver injury. Studies carried out during the past 30 years have shown that alpha- 1 antitrypsin deficiency is a very variable disease and that it is extremely difficult to predict the course of the disease in an individual child. Because only a small percentage of children develop liver disease, most children do not need any form of treatment. Indeed in some families one child may not show any signs of liver disease whereas a brother or sister may be seriously affected. There is no specific treatment.
Supportive treatment is given as necessary depending on the severity of liver disease.
This will include nutritional supplementation, fat soluble vitamins and treatment for itch, etc. All children and families must be advised of the dangers of cigarette smoking. With the completion of the human genome project, there is much talk of gene therapy being developed for many diseases. However, although gene therapy for alpha-1 antitrypsin deficiency may be theoretically possible it may bring with it the potential problem of emphasising the mutant allele, thus making the problem worse. Because AATD is due to accumulation of abnormal protein, simple replacement gene therapy will be insufficient.