Alpha-1 antitrypsin deficiency | the most common genetic cause for paediatric liver transplants

Alpha-1 antitrypsin (A1AT) deficiency is a genetic disorder affecting predominantly the lungs and liver. Although it is considered uncommon, there is some evidence to suggest it is under recognised and under diagnosed. A1AT itself is a protease inhibitor that helps protect the lung and other tissues. 

Liver disease is more likely to be the predominant presenting feature in kids, but many people with A1AT enter adulthood without a diagnosis. 

 

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(This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)