What's alpha 1-antitrypsin deficiency?Alpha1 antitrypsin deficiency is an inherited condition occurring in approximately one in 5,000 live births. In this condition, the alpha1 antitrypsin which is produced by the body is abnormal with no protective activity and is not released in sufficient amount from the liver. As a consequence, the trypsin in the body not only breaks down proteins in foods, but also attacks
various body tissues. This can lead to liver disease in young children (and occasionally in middle age) and/or lung disease in young adults.
Alpha-1 antitrypsin is a protein that is made in the liver. The liver releases this protein into the bloodstream. Alpha-1 antitrypsin protects the lungs so they can work normally. Without enough alpha-1 antitrypsin, the lungs can be damaged, and this damage may make breathing difficult. In addition, liver damage (hepatitis, cirrhosis) can occur in both children and adults. Alpha-1 antitrypsin deficiency is an inherited (passed down from parents) disorder that causes low levels of, or no alpha-1 antitrypsin in the blood.
Alpha-1 antitrypsin deficiency is the most common genetic cause of liver disease in children and is the most common genetic disease for which liver transplantation is done. Its primary manifestation is early-onset panacinar emphysema. A minority of patients develops hepatic cirrhosis. Slowly progressive dyspnea is the primary symptom, although many patients initially have symptoms of cough, sputum production, or wheezing.