Alpha-1 Antitrypsin Deficiency

Also called AAT deficiency, alpha-1 antitrypsin deficiency is a genetic disease, which means it's passed down from your parents. It can cause serious lung disease that makes it hard to breathe. It can also cause liver disease that leads to jaundice, which makes your skin look yellowish.

There's no cure, but treatments can help you manage your liver and breathing problems.

You get the disease because your liver doesn't make enough of a protein called alpha-1 antitrypsin, or AAT. You need AAT to protect your lungs from getting broken down. Without it, infections and other irritants, like tobacco smoke, break down parts of your lung even faster.

If you have AAT deficiency, you might not have any breathing symptoms until you're in your 20s or 30s. But when they start, you could feel short of breath or wheeze when you breathe, just like someone who has asthma.

For some people, AAT deficiency can cause chronic pulmonary obstructive disease (COPD). When you have COPD, you often have symptoms of emphysema, a serious condition that makes it hard for you to push air out of your lungs. COPD can make you cough up mucus, make you wheeze or have trouble breathing, and make your chest feel tight.

You also might have chronic bronchitis, an irritation of your airways that makes you cough a lot and have trouble breathing.

You'll probably need to take medicine through an inhaler that you carry around, like the type that people with asthma use. It's something you'll need to do throughout your life.

Keep in mind that no two cases of AAT deficiency are alike. Not everyone gets severe symptoms. With treatment, you’ll probably still be able to work, exercise, and enjoy many of your favorite hobbies.

Reach out to a circle of friends and family, and ask your doctor about support groups. It can help to talk to people who understand just what you're going through.

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Causes

Alpha-1 antitrypsin deficiency runs in families. If you have it, you got it from faulty genes that both your parents passed on to you.

Some people get the genes but don't get any symptoms. Or they have the mild version of the disease.

The broken genes you get from your parents cause you to have a low level of AAT protein in your blood. It can build up in the liver instead of going into your bloodstream.

That buildup in your liver causes liver disease. The shortage of AAT protein in your bloodstream leads to lung disease.

Symptoms

You might not know you have the disease until you're an adult, between the ages of 20 and 40. You may feel short of breath, especially when you try to exercise. You also may start to wheeze or have a whistling sound when you breathe.

You may also get a lot of lung infections. Other warning signs include:

  • Feeling tired
  • Your heart beats fast when you stand up
  • Weight loss

If AAT deficiency causes problems with your liver, you might have symptoms like:

A newborn baby might have jaundice, or a yellow coloring of the skin or eyes, very yellow urine, poor weight gain, an enlarged liver, and bleeding from the nose or umbilical stump.

In rare cases, a skin disease called panniculitis causes hardening of the skin with painful lumps or patches.

Diagnosis

Your doctor may ask you questions such as:

  • Do you feel short of breath?
  • Have you been getting a lot of colds or lung infections?
  • Have you lost weight lately?
  • Have you noticed any yellowing of your skin or eyes?

Your doctor will also listen to your breathing with a stethoscope to check for wheezing or other signs that your lungs aren't working right.

You need to get blood tests to confirm your diagnosis. These tests check to see if you have the broken genes that cause AAT deficiency. They also look to see how much of the protein you have in your bloodstream.

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Your doctor will also order tests of your lungs and liver to see how much damage the condition has caused. For example, a chest X-ray shows signs of emphysema.

A special blood test checks the oxygen level in your arteries, a sign of how well your lungs work. You might breathe into a tube to see how much air you're getting into your lungs.

Another blood test checks for problems with your liver. You may also get a liver biopsy, in which your doctor uses a very thin needle to take some cells from your liver and check for signs of damage.

Questions for Your Doctor

  • Have you treated other people with AAT deficiency?
  • How can I protect my lungs and liver?
  • What treatment do you recommend?
  • How will we know how I'm doing?
  • Should I get my children tested for this condition?

Treatment

Although there’s no cure for AAT deficiency, you can raise the amount of AAT protein in your blood, which protects you against more lung damage. Doctors call this augmentation therapy. You may have this treatment if you get emphysema.

Augmentation therapy is also called "replacement therapy." You get a new supply of AAT protein that comes from the blood of healthy human donors. You get the treatment once a week. The "replacement" alpha-1 gets into your body through an IV. You can have this done at home with the help of a technician, or you can go to a doctor's office.

The goal of augmentation therapy is to slow or stop the damage in your lungs. It won't reverse the disease or heal any damage you already have.

You will need these treatments throughout your life.

Depending on how you're doing, you also may get medication that you breathe into your lungs with an inhaler. Doctors call this a bronchodilator, meaning that it opens your airways.

If your breathing trouble leads to low levels of oxygen in your blood, you might need to get extra oxygen through a mask or nosepiece. Your doctor will also give you a referral for pulmonary rehab to help you breathe better.

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Taking Care of Yourself

Good habits are very important to help you stay healthy with this condition. You shouldn’t smoke, and you need to get a pneumonia vaccine and your annual flu shot.

Talk to your doctor about how to exercise safely, which strengthens your lungs.

Good nutrition -- including supplements with vitamins E, D, and K -- can help you keep your liver healthy. Avoid dust and smoke, and wash your hands often to prevent infection. Limit the alcohol you drink to protect your liver.

Babies with AAT deficiency may need a special milk formula or extra vitamins. It's also important for them to have regular medical checkups to keep track of how well their lungs and liver are working.

Support from your loved ones, and from others who have the same condition, also makes a big difference, so you know there are people who understand what you’re going through.

What to Expect

AAT deficiency is different for everyone. Some people have severe problems, but others may have few or no symptoms.

In babies and children, the condition is more likely to cause liver damage than lung problems. Still, only about 10% of children with it have severe liver disease. Children with AAT deficiency also may have asthma.

You'll be more sensitive to smoke and dust, and even the common cold can lead to breathing problems. About 30% to 40% of people with this condition will have liver problems at some point in their lives. Finding out if you have AAT deficiency is the first step toward the healthy habits and medical treatments that help control the disease.

Get Support

You can find names of doctors, links to support groups, genetic counseling resources, and other information from the Alpha-1 Foundation website.

WebMD Medical Reference Reviewed by Neha Pathak, MD on July 10, 2017

Sources

SOURCES:

Alpha-1 Foundation: "What is Alpha-1?"

American Lung Association: "Alpha-1 Antitrypsin Deficiency."

American Thoracic Society: "Patient Information Series: What is Alpha-1 Antitrypsin Deficiency?"

Children's Liver Disease Foundation: "Alpha-1 Antitrypsin Deficiency."

Cleveland Clinic: "Alpha-1 Antitrypsin Deficiency Center."

National Heart, Lung, and Blood Institute: "What to Expect During Lung Function Tests," "What is COPD?"

National Human Genome Research Institute: "Learning About Alpha-1 Antitrypsin Deficiency."

National Jewish Health: "Alpha-1 Antitrypsin Deficiency: Inherited Liver Disease."

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