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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, she will most likely go on to enjoy a healthy childhood.

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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)
  • 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?

You can only get alpha-1 if both your parents carry a faulty gene and pass it to you.  If the gene is passed to you from only one parent, you won't get the disease, but you will be a carrier and can pass the gene to your children.

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 1 in 20 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.

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