Familial emphysema

Overview

Type of disease: Rare Condition or Disease

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 usually makes the protein, and releases it into the bloodstream. Because of a mutation in the SERPINA1 gene, some people have little or no AAT. Not having enough AAT may lead to emphysema or liver problems. Smoking increases the risk. A deficiency of AAT can be treated but not cured. One treatment involves adding to or replacing the missing protein. More severe cases may require a lung transplant. This condition is caused by mutations in the SERPINA1 gene and inherited in an autosomal co-dominant fashion. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.