Diagnosing and Treating Alpha-1 Antitrypsin Deficiency
If you are a younger than average individual with emphysema or liver disease, your doctor may decide to test you for AAT deficiency with a blood test. Not every individual with AAT deficiency will require treatment especially if they have one of the less severe genetic alterations to the AAT gene.
What to Expect
In most individuals with AAT deficiency, lung disease does not occur until the age of 30 or 40 years. Smokers with AAT deficiency develop disease 10 or more years earlier than non-smokers. Liver disease does not occur in every individual with AAT deficiency; however, it usually occurs by age 40.
How AAT Deficiency Is Diagnosed
All individuals with COPD or emphysema, regardless of age or ethnicity should be tested for AAT deficiency. Your doctor may order a screening blood test to check the level of alpha-1 antitrypsin in your body. An AAT level below 57mg/dl is usually considered lower than normal. If levels are low, genetic testing (from a blood test) may be performed to identify the abnormal gene that was passed to you from your parents. If you haven’t already had a lung function test or spirometry to measure your breathing ability this will likely be performed. You will also likely have a chest X-ray or CT scan of your lungs, blood testing of liver function, and in some cases an ultrasound of the liver. If you have low levels of AAT but normal liver and lung function tests, you may not need treatment; however, you will be monitored with repeat testing over time.
How AAT Deficiency Is Treated
If you are diagnosed with AAT deficiency, your doctor may or may not suggest treatment based on the results of other testing and severity of your symptoms.
- If you have no symptoms - you may be advised to return for regular follow up. You should restrict alcohol consumption, get regular exercise and control your weight. You may be asked to get a pneumonia vaccine every 5 years and flu vaccine every year.
- If you have lung disease – If you smoke, you must stop smoking—call the Lung HelpLine at 1-800-LUNGUSA to get help quitting. Additionally, treatment may include prescribed inhaled medications to control symptoms of emphysema, referral to a pulmonary rehabilitation program, and antibiotics and inhaled corticosteroids to control symptoms of flare ups, infections or exacerbations if needed. If you are not a current smoker and your lung function is rapidly declining, you may be considered eligible for AAT replacement therapy. Replacement therapy will increase blood levels of AAT, but currently it is not clear that it leads to longer-term improvements in lung function or survival. Replacement therapy is given intravenously. Some patients with advanced lung disease may be referred for lung volume reduction surgery (LVRS) or lung transplantation.
- If you have liver disease – you will undergo frequent monitoring of liver function and in severe cases, you may be referred for liver transplantation.
Approved by Scientific and Medical Editorial Review Panel. Last reviewed August 4, 2016.