Alpha-1 Antitrypsin Deficiency (AATD) (Alpha-1) (Inherited Emphysema)

Alpha-1 Antitrypsin Deficiency (AATD) (Alpha-1) (Inherited Emphysema)

Dr. Kennedy
Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver makes the protein, and releases it into the bloodstream. Because of a genentic abnormality, some people have little or none of it. Not having enough AAT puts you at risk of emphysema or liver problems. Three in four adults with a severe deficiency will get emphysema, some when they are younger than 40. Smoking increases risk. Children with AAT deficiency can develop liver problems that persists for life. AAT deficiency can be treated but not cured. One treatment involves adding to or replacing the missing protein. A lung transplant may be an option if the patient is seriously ill. Staying away from cigarette smoke is crucial. A blood test can diagnose the deficiency. If present relatives should be tested.

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