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Alpha-1 Antitrypsin Deficiency

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What Is Alpha-1 Antitrypsin Deficiency?

Alpha-1 antitrypsin deficiency (alpha-1) is a genetic disease, meaning 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 for alpha-1, 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, which protects your lungs from getting inflamed by infections or something irritating that you breathe in.

You might not have any 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, alpha-1 can turn into chronic 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 long-term 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.

If your symptoms turn into emphysema, you might need regular medicine that you get through an IV. You’ll likely get this treatment once a week.

It’s natural to feel worried when you first get a diagnosis. Keep in mind that no two cases of alpha-1 are alike. Not everyone gets severe symptoms. With treatment, it’s likely that you’ll still be able to work, exercise, and enjoy many of your favorite hobbies.

You don’t have to face things alone, either. Reach out to a circle of friends and family to get the support you need. You can also ask your doctor about support groups. It can be a huge help to talk to people who understand just what you’re going through.

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 alpha-1 protein in your blood. The alpha-1 protein can build up in the liver instead of going into your bloodstream.

The buildup in your liver causes liver disease. The shortage of alpha-1 protein in your bloodstream leads to lung disease.

Symptoms

You might not know you have the disease until you’re a young 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 alpha-1 causes problems with your liver, you might have symptoms like:

  • Yellowish skin or eyes
  • Swollen belly or legs
  • Coughing up blood

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.

Getting a Diagnosis

To get a 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?

He’ll also listen to your breathing with a stethoscope to see if he hears wheezing or other signs that your lungs aren’t working right.

You need to get blood tests to confirm your diagnosis. Your doctor will take a sample of blood from you and send it to a lab.

The blood tests check to see if you have the broken genes that cause alpha-1. They also look to see how much of the protein you have in your bloodstream.

Your doctor will also order tests of your lungs and liver to see how much damage alpha-1 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 are working. 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. Your doctor may also do a liver biopsy. He’ll insert a very thin needle into your liver to take some cells and check for signs of damage.

Questions for Your Doctor

  • Have you treated other people with alpha-1?
  • How can I protect my lungs and liver?
  • What treatment do you recommend?
  • How will we know how I’m doing?
  • Should I have my children tested for alpha-1?

Treatment

There is no cure for alpha-1, but you can raise the amount of alpha-1 protein in your blood, which protects you against more lung damage. This is called augmentation therapy. You may get this treatment if you develop emphysema.

Augmentation therapy is also called “replacement therapy.” You get a new supply of alpha-1 protein that’s taken 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 cure the disease or heal any damage you already have.

You’re going to need these treatments throughout your life. You may want to reach out to family and friends for support. It’s also a good idea to talk to others who are going through the same thing. Ask your doctor to help you find support groups in your area.

Depending on how you’re doing, you also may get medication that you breathe into your lungs with an inhaler. This is called a bronchodilator. 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 nose piece.

Taking Care of Yourself

Good habits are very important to help you stay healthy with alpha-1. You should not smoke, and you should get a pneumonia vaccine and your annual flu shot.

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

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 alpha-1 may need a special milk formula or extra vitamins. It’s also important to keep track of their lung and liver function with regular medical checkups.

What to Expect

Alpha-1 is different for everyone. Some people have severe problems, but others may have few or no symptoms.

In babies and children, alpha-1 is more likely to cause liver damage than lung problems. Still, only about 10% of children with alpha-1 have severe liver disease. Children with alpha-1 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 alpha-1 will have liver problems at some point in their lives. Finding out if you have alpha-1 is the first step toward the healthy habits and medical treatments that help control the disease.

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