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Alpha-1 Antitrypsin Deficiency
Definition
A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure. (NCI Thesaurus)
More information
Alpha-1 antitrypsin deficiency (AAT deficiency) is an inherited condition that raises your risk for lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver makes it. If the AAT proteins aren't the right shape, they get stuck in the liver cells and can't reach the lungs.
Symptoms of AAT deficiency include
• Shortness of breath and wheezing
• Repeated lung infections
• Tiredness
• Rapid heartbeat upon standing
• Vision problems
• Weight loss
Some people have no symptoms and do not develop complications.
Blood tests and genetic tests can tell if you have it. If your lungs are affected, you may also have lung tests. Treatments include medicines, pulmonary rehab, and extra oxygen, if needed. Severe cases may need a lung transplant. Not smoking can prevent or delay lung symptoms. (NIH: National Heart, Lung, and Blood Institute)
Also called: AATD, Alpha-1, Inherited emphysema
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