Understanding COPD: Alpha-1 Antitripsyn
Alpha-1 antitrypsin (AAT) is a protein that helps protect lungs against damage from toxins. When the body releases white blood cells to fight off infection or disease, the liver releases AAT to protect against damaging enzymes. For someone who has an AAT deficiency, the body does not release any or enough AAT, so the person can develop lung damage (emphysema).
Unlike the common form of emphysema seen in people who smoke, AAT deficiency can cause emphysema at an unusually young age and after minimal exposure to tobacco or no exposure at all. For people who have AAT deficiency and smoke, emphysema may start 10 years earlier than in people without the disease. AAT deficiency occurs in 1 out of 3,000 to 5,000 people and is a common deadly hereditary disease.
SymptomsThe most common symptom of AAT deficient emphysema is shortness of breath during physical activity and eventually during normal daily activities. Shortness of breath usually starts between the ages of 30 to 45, which is 20 to 30 years earlier than people who smoke and have emphysema without this deficiency. The most common symptoms include:
- shortness of breath
- sputum production
- intermittent wheezing
- recurring chest colds.
Less common symptoms include jaundice (a yellowing of the skin), abdominal swelling, gastrointestinal bleeding, and unexplained liver problems. AAT deficiency is often incorrectly diagnosed as asthma, sinusitis, post-nasal drip, or acid reflux.
Testing for AAT deficiency is quick, easy, and highly accurate with a simple finger stick. If a person's level of AAT is low, a healthcare provider will follow up with genetic testing and other diagnostic tests.
If you have a family history of emphysema, COPD or liver disease at an early age, adult-onset asthma, or recurrent bronchitis you should be tested. It is also recommended that anyone diagnosed with COPD, as well as children with asthma that is not fully reversible, be tested for AAT deficiency. Testing is not only important for accurate diagnosis and treatment but should be used to alert other family members about their potential risk of disease.
Once diagnosed, there are several steps that can be taken to prevent or slow the progression of the disease. The highest priority for people with AAT deficiency is to quit smoking to reduce the risk of death and increase quality of life.
The second priority is sound treatment including pulmonary rehabilitation and bronchodilators to maximize lung function. A pneumonia and an annual influenza (flu) vaccination can also help prevent respiratory infections. Additionally, weekly intravenous infusions of Alpha-1 antitrypsin as a replacement therapy for AAT may reduce symptoms, decrease the loss of lung function, and increase the survival of patients. Lung transplantation may also be an option for some patients with severe disease.People with AAT deficiency should follow good health practices, including:
- participating in a pulmonary rehabilitation program
- adhering to a good nutrition and exercise program
- reducing alcohol consumption
- staying current with immunizations
- developing a stress-management program
- avoiding exposure to people who are sick
- maintaining regular healthcare provider appointments and complying with prescribed medications and professional advice
- all forms of tobacco smoke, including second-hand smoke
- occupational and environmental pollutants, including dust and pollen
- wood-burning stoves
- fumes from household cleaning products
- paints and/or other toxic agents
Talk with your family
AAT deficiency is a hereditary disease, which means it is passed from one generation to another. People with this condition should talk with their parents, brothers, sisters, and their children to encourage them to be tested for the disorder. Although others in the family may not test positive for AAT deficiency, they may be carriers of the disease. Genetic and psychological counseling can provide the knowledge and support needed for families who have been diagnosed with a hereditary condition. If you have any questions or would like more information, please ask your healthcare provider about AAT and testing for AAT deficiency.