Alpha-1 antitrypsin deficiency
| Alpha-1 antitrypsin deficiency | |
|---|---|
| Term | Alpha-1 antitrypsin deficiency |
| Short definition | Alpha-1 antitrypsin deficiency (AL-fuh . |
| Type | Cancer terms |
| Specialty | Oncology |
| Language | English |
| Source | NCI |
| Comments | |
Alpha-1 antitrypsin deficiency - (pronounced) (AL-fuh . . . AN-TE-TRIP-sin-deh-FIH-shun-see) 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. Alpha-1 antitrypsin 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 alpha-1 antitrypsin deficiency almost always occur in adults, but liver and skin problems can occur in both adults and children. Alpha-1 antitrypsin deficiency is caused by a mutation (change) in a gene called SERPINA1. Also called AAT deficiency
External links
- Medical encyclopedia article on Alpha-1 antitrypsin deficiency
- Wikipedia's article - Alpha-1 antitrypsin deficiency
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