An inherited disorder affecting lung (emphysema) and liver (Liver Cirrhosis). A1AT is a glycoprotein and a serine protease inhibitor made in the liver which controls inflammatory cascades. It can build up in the liver to cause damage. In children more likely to cause liver symptoms, in adults more lung.
Autosomal codominant inheritance pattern
Symptoms
Symptomatic patients usually have the PiZZ genotype (homozygous for condition)
- dyspnoea from emphysema
- Liver Cirrhosis
- cholestatic Jaundice
Cholestasis often remits in adolescence
Diagnostic Tests
- Serum A1AT level usually or lower limit of normal. Inflammation may hide a lower level
- Lung function test reductions
- Liver biopsy
- Phenotyping
- Prenatal diagnosis
Management
- Smoking cessation
- Vaccination to protect against lung infections
- Liver transplant if liver failed
- Lung transplant