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AAT Deficiency Starts in the Liver

If you have alpha-1 antitrypsin deficiency (AAT deficiency), you may worry about liver disease. AAT deficiency can cause liver disease, most often in infants and small children.

Most people don't have serious liver problems, though. And if you have a young child with AAT deficiency, she will most likely go on to enjoy a healthy childhood.

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Your best defense is to live healthy and work with your doctor to help prevent liver problems or ease them if they do happen.

How AAT Deficiency Affects Your Liver

AAT deficiency is a rare disease that makes an enzyme in your liver work poorly. AAT protein is made in your liver. It usually travels through your bloodstream to protect your lungs and other organs from damage. 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. It can also cause lung problems.

Liver Symptoms

If you are an adult whose liver is affected by AAT deficiency, you may have:

  • Jaundice (yellowing of your skin or eyes)
  • Vomiting
  • Swelling or pain in your belly

A child born with AAT deficiency may have liver symptoms in the first weeks of life. See your child's doctor if your infant 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?

You can only get AAT deficiency if your parents carry the gene and pass it on to you.

You are less likely to get liver problems if only one of your parents carries the AAT deficiency gene. Your risk is highest if both your parents carry it.

Most people with AAT deficiency don't have liver problems. Your lifetime chance of getting them is 30% to 40%. If you're an adult, liver disease is most likely after age 50.

Babies and AAT Liver Problems

About 1 in 20 babies with two abnormal genes gets liver disease during their first year.

Most children grow up without major liver problems. Even if blood tests show signs of liver disease, he may never have symptoms. And the disease may well improve on its own by his 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 intestinal bleeding and fluid in the abdomen

The lung treatment for AAT deficiency, called augmentation therapy, doesn't prevent or reduce liver damage.

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 AAT deficiency. 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.

WebMD Medical Reference

Reviewed by James E. Gerace, MD on May 03, 2013

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