If you have AATD you are more likely to develop COPD. If both parents pass on a faulty gene, you will almost certainly develop AATD. Your body should still produce enough AAT to protect your lungs, however, some people with one faulty gene may develop lung problems if they smoke. If you receive one faulty gene from either of your parents, you are considered to be a carrier of a defective AAT gene. Each parent passes one of the two possible AAT genes to their child. Everyone has two copies of the gene responsible for AAT protein production in the liver. Liver transplants have been effective in reversing the symptoms of liver failure due to alpha-1 antitrypsin deficiency.AATD is an inherited genetic condition. Long-Term OutlookThere is good chance of avoiding liver disease since only about 10 percent of children with alpha- 1-antitrypsin deficiency develop significant liver disease. It is critical for a child with AATD to avoid smoking or being exposed to second-hand smoke. A liver transplant totally replaces the abnormal liver cells that produce the abnormal deficiency and corrects the protein abnormality. They will treat symptoms while your child waits for a donated liver. If a transplant is the best treatment option, the doctor and the other members of the patient care team focus on preventing complications. Transplantation results in a cure of AATD.
A test also is available to check if a baby in the womb has the condition. The blood test can be done soon after a baby is born if there is a family history of the deficiency. This test can tell whether a person has AATD or is a carrier.
It is important to recognize that the severity of the liver and lung disease linked with AATD can vary greatly. A 25 percent chance their child will receive both normal genes, one from each parent, and will be unaffected.A 50 percent chance their child will receive one abnormal gene from one of the parents, which means the child will not show symptoms of the disorder but is a "carrier".A 25 percent chance their child will have the disease.If both parents carry an abnormal gene for AATD, there is: About 10 percent of patients with the severe form of AATD have liver disease that eventually requires a liver transplant.ĪATD is an inherited condition and does not appear unless a person receives the same defective gene from both parents.
At the same time, the build-up of the abnormal protein in the liver leads to liver disease. The lack of this protein in the lungs leads to lung disease during adult years. Our bodies need alpha-1 antitrypsin to protect tissues in the body, particularly the lungs. In AATD, the body does not make the correct form of this protein. Alpha-1 antitrypsin is a protein that is made in the liver and then released into the bloodstream.