Pediatric Alpha-1 Antitrypsin Deficiency (A1AT)
What is Alpha-1 antitrypsin deficiency?
Alpha-1 antitrypsin deficiency is a rare genetic disorder that can cause lung and liver disease.
If your child has Alpha-1 antitrypsin (A1AT) deficiency, it means that their body does not make enough of a protein called alpha-1 antitrypsin. This protein is needed to protect the lungs and the liver. When this protein is not released from the liver at a normal rate, it builds up in the liver and can cause cirrhosis (liver damage). When the protein is not available to protect the lungs from inflammation and damage, it can result in emphysema (lung disease).
A child with A1AT deficiency can develop liver disease at any age. The effects on the lungs are not usually seen until adulthood, and are made worse by tobacco smoke.
What causes Alpha-1 antitrypsin deficiency?
A1AT deficiency happens when a child inherits a genetic defect from both parents. There is a mutation (permanent change) in the gene that provides the instructions for making the alpha-1 antitrypsin protein. This mutation leads to a shortage of the necessary protein, or an abnormal form of the protein that is ineffective.
What are the symptoms of Alpha-1 antitrypsin deficiency?
It is possible for your child to be born with A1AT deficiency and stay healthy throughout their entire life. When symptoms do appear, they may include:
- Difficulty breathing
- Chronic cough
- Chronic respiratory infections
- Cirrhosis (liver disease)
- Emphysema (lung disease)
- Environmental allergies
- Fatigue (extreme tiredness)
- Liver cancer
- Panniculitis (a skin disease featuring hardened skin with painful lumps)
- Rapid heartbeat
- Shortness of breath
- Vomiting blood (due to liver damage)