Alpha-1 Antitrypsin Deficiency Starts in the Liver

Alpha-1 Antitrypsin Deficiency Starts in the Liver

If you have alpha-1 antitrypsin deficiency, also called alpha-1, you have a greater chance of liver disease.

Most people don’t have serious liver problems, though. And if you have a young child with alpha-1, they will most likely go on to enjoy a healthy childhood.

Your best defense is to live a healthy lifestyle and to work with your doctor to take good care of your liver problems, or ease problems if they do happen.

How Alpha-1 Affects Your Liver

Alpha-1 is a rare disease that makes an enzyme in your liver work poorly. Alpha-1 antitrypsin protein usually travels from your liver through your blood to protect your lungs and other organs. But if the proteins aren’t the right shape, they can get stuck in your liver.

This can cause cirrhosis, severe liver damage and scarring, and liver cancer. And because the proteins aren’t traveling to your lungs like they should, it can also cause lung problems.

Liver Symptoms

If you are an adult whose liver is affected by alpha-1, you may have:

  • Jaundice (yellowing of your skin or eyes, which can happen at any age if liver disease is bad enough)
  • Vomiting
  • Swelling or pain in your belly

A child born with alpha-1 may have liver symptoms in the first weeks of life. See your child’s doctor if your baby has the above symptoms or:

  • Poor growth
  • Diarrhea
  • Itching

Liver symptoms may also appear when a child is older. These can include:

  • Poor appetite
  • Swollen abdomen
  • Fatigue

Are You at Risk?

Alpha-1 is hereditary. You can only get it if both your parents carry the faulty gene and pass it to you. If the gene is passed to you from only one parent, you will be a carrier and can pass the gene to your children. Very infrequently, carriers may develop significant liver and lung disease, with lung disease occurring mainly in smokers.

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Most people with alpha-1 don’t have liver problems. Your lifetime chance of getting them is 30% to 40%. Liver disease is most likely after age 50.

Babies and AAT Liver Problems

About 5% to 10% of babies with two broken genes will get liver disease during their first year.

But most children with this disorder grow up without major liver problems. Many never have symptoms. The disease may improve on its own by the teen years.

In rare cases, your child may need a liver transplant in the first few years of life.

Treating Liver Problems

If your liver is damaged, you can get treatment to help prevent or slow down the health problems this can cause. You can also get treatments to ease symptoms. These include:

  • Vitamin supplements
  • Medicines to ease itching or jaundice
  • Treatments for bleeding and fluid in your belly

The lung treatment for alpha-1, called augmentation therapy, doesn’t prevent or reduce liver damage, but it can slow the progression of lung disease.

If your liver damage is life-threatening or severe, you may need a liver transplant.

Stay Healthy to Prevent Problems

There is no cure for alpha-1. But healthy living and good health care can help you prevent problems and stay at your best:

  • Get regular checkups and tests as recommended by your doctor.
  • Avoid alcohol and tobacco smoke.
  • Get vaccinated against hepatitis A and B, which can cause liver damage.
  • Keep your diet and weight healthy.


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