What is Alpha 1 Antitrypsin Deficiency (AAT)
Alpha 1 Antitrypsin is a protein that helps the lungs and other organs to work properly. It is made by the liver. AAT deficiency is a genetic condition that happens when the liver produces too little AAT, no AAT, or AAT that does not work properly.
AAT deficiency can cause liver disease, lung disease, and a skin condition that is called panniculitis (rare). Exposure to things like smoke and dust can make AAT deficiency worse.
What are the causes?
AAT deficiency is caused by a genetic defect (gene mutation). The gene mutation is passed from parent to child (inherited). The disease typically develops only if a person inherits the defective gene from both parents.
What increases the risk?
You may be at greater risk for AAT if you:
- Have a family history of the condition.
- Are Caucasian and have European ancestry.
What are the signs or symptoms?
- Shortness of breath.
- Wheezing.
- Asthma that is difficult to control.
- Coughing.
- Recurring infections in the breathing (respiratory) system.
- Unexplained weight loss.
- Rapid heartbeat.
- Fatigue.
- Pain in the belly (abdomen).
- A yellowish discoloration of the skin, the whites of the eyes, and the mucous membranes (jaundice).
- Swelling of the ankles or abdomen.
- Hardened skin with painful lumps (panniculitis).
How is this diagnosed?
Your health care provider can diagnose AAT deficiency with a blood test or with a DNA sample from your mouth. He or she may order additional tests, such as:
- Imaging studies of your chest, such as an X-ray or CT scan.
- Lung function tests to see how well your lungs are working.
- Liver function tests to see how well your liver is working.
- A liver biopsy to check for damage to your liver.
How is this treated?
There is no cure for AAT deficiency. However, treatments can relieve symptoms and improve quality of life. Treatment options include:
- Inhaled steroids or bronchodilators. These can help with breathing problems.
- Pulmonary rehabilitation. This helps to improve lung function and teaches you to breathe more efficiently.
- AAT augmentation therapy. This involves weekly injections to increase your level of AAT.
- Prescription vitamins, including vitamins D, E, and K. Vitamins can help to maintain normal liver function.
- Medicine to relieve symptoms that are related to liver problems, including jaundice, fluid retention, and severe itching.
- A lung transplant. This is rarely needed. It may help someone who has severe AAT deficiency.
Follow these instructions at home:
Lifestyle
- Do notuse any tobacco products, including cigarettes, chewing tobacco, or electronic cigarettes. If you need help quitting, ask your health care provider.
- Avoid secondhand smoke.
- Limit alcohol intake to no more than 1 drink per day for nonpregnant women and 2 drinks per day for men. One drink equals 12 ounces of beer, 5 ounces of wine, or 1½ ounces of hard liquor.
- Exercise regularly.
Reducing Breathing Problems
- Stay indoors when air quality is poor.
- Wear a mask to keep your airways free of dust.
- Talk to your health care provider about getting flu (influenza) and pneumonia vaccines to prevent respiratory infections.
- Wash your hands often to prevent infections.
- Avoid activities such as vacuuming or mowing when possible.
General instructions
- Take medicines and vitamins only as directed by your health care provider.
- Keep all follow-up visits as directed by your health care provider. This is important.
Contact a health care provider if:
- You often get respiratory infections, such as bronchitis or pneumonia.
- You wheeze, cough, or have other breathing problems that are not helped with medicine.
- You experience new liver-related problems, such as jaundice.
Get help right away if:
- Your respiratory infection does not go away completely, or it returns after treatment.
- Your breathing problems are so bad that you become dizzy or weak or you pass out.
