Alpha-1-antitrypsin deficiency

Most women with alpha-1 antitrypsin deficiency (AATD) have normal pregnancies. Because the condition is under-recognized, and because symptoms often first occur after usual childbearing years, many women with AATD do not know that they have it when they become pregnant. If you know you have AATD and are considering pregnancy, talk with your doctor about any specific recommendations. AATD genetic testing for your reproductive partner can usually help you learn whether there is a risk for AATD in the baby. You may want to contact a genetic counselor to discuss prenatal testing. Genetic counselors can be found on the National Society of Genetic Counselors website.

Home infusions are possible for most people receiving augmentation therapy to treat their alpha-1 antitrypsin deficiency. This may depend on your health insurance coverage and availability of home infusion service near you. Talk to your physician or specialty pharmacy about your infusion options.

If you have received a new liver through liver transplantation, the liver will make alpha-1 antitrypsin normally (as long as it is from an unaffected donor). Augmentation therapy will no longer be needed.

Talk with your doctor and transplant team. There are controversial opinions about the use of augmentation therapy for people with alpha-1 antitrypsin deficiency (AATD) after lung transplantation. In one rationale, the length of time (usually decades) that it takes for alpha-1 lung disease to develop is longer than most people are expected to live post-transplant. It is unlikely that the transplanted lungs would ever develop AATD-related lung disease. In another rationale, the recipient with AATD still has the deficiency and augmentation therapy may be continued to promote an optimal condition for the lungs. Anti-inflammatory properties of alpha-1 antitrypsin may also support its use in people post-transplant, but more research is needed.

Exercise helps people achieve a healthy body composition, which is good for lung and liver health and general well-being. It is recommended that you speak with your personal physician before beginning a new exercise program.

Not all airlines allow portable oxygen concentrators (POC) on the plane, but some do. Check with your airline and the manufacturer of your POC to determine whether it is approved for flight. The Alpha-1 Foundation also offers resources about traveling with oxygen at www.alpha1.org.

Smoking is the biggest risk factor for chronic obstructive pulmonary disease (COPD) in all people. Smoking makes COPD more likely to occur, and occur earlier, in people with alpha-1 antitrypsin deficiency (AATD). If you have been found to have alpha-1 antitrypsin deficiency and smoke, talk with your doctor about strategies to quit. Strategies may include medications and cessation support. People who are MZ carriers for alpha-1 antitrypsin deficiency are also at higher risk for COPD if they smoke.