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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.

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