AAT deficiency

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AAT deficiency
TermAAT deficiency
Short definition
TypeCancer terms

AAT deficiency - An inherited condition in which the body either does not make enough of a protein called alpha-1-antitrypsin (AAT) or an abnormal form of AAT. AAT is made in the liver and helps protect the body's organs, particularly the liver and lungs, from damage. AAT deficiency can lead to serious lung disease (including emphysema and bronchiectasis) and liver disease (including cirrhosis, hepatitis, and liver cancer). It can also cause inflammation of blood vessels and a rare skin condition that causes painful lumps on or under the skin. Lung problems caused by AAT deficiency almost always occur in adults, but liver and skin problems can occur in both adults and children. AAT deficiency is caused by a mutation (change) in a gene called SERPINA1. Also called alpha-1 antitrypsin deficiency


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