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Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (Alpha-1) is a hereditary genetic disorder which may lead to the development of lung and/or liver disease. It is the most common genetic cause of liver disease in children. Adults can also be affected by Alpha-1 and may develop lung conditions such as emphysema as well as liver problems. Fortunately, many persons diagnosed with Alpha-1 never develop any of the associated diseases.

What are the symptoms of Alpha-1 Antitrypsin Deficiency?

In newborns, the typical symptoms of Alpha-1 are jaundice, swelling of the abdomen, and poor feeding. Alpha-1 may also appear in late childhood or adulthood and be detected because of fatigue, poor appetite, swelling of the abdomen and legs or abnormal liver tests.

What causes Alpha-1 Antitrypsin Deficiency?

Alpha-1 antitrypsin is a protein made in the liver which plays an important role in preventing the breakdown of enzymes in various organs. Individuals with Alpha-1 have a genetic disorder that prevents their body from creating enough of this protein. This trait must be inherited from both parents (who are, by definition, carriers) in order to cause the disorder.

How is Alpha-1 Antitrypsin Deficiency diagnosed?

The diagnosis of Alpha-1 is made by blood tests showing the low levels of alpha-1 antitrypsin and abnormal liver tests. Other tests such as ultrasound imaging or tests using specialized X-ray techniques may be necessary. A liver biopsy may be performed to check for damage to the liver.

How is Alpha-1 Antitrypsin Deficiency treated?

Currently, there is no cure for Alpha-1. Treatment is designed to maintain normal nutrition, to provide the liver and the body with essential nutrients, and to identify complications early in order to treat them better. Multiple vitamins and vitamins E, D, and K are often given. Certain abnormalities can be treated or controlled. Jaundice, severe itching, and fluid retention can all be dealt with through medication.

Who is at risk for Alpha-1 Antitrypsin Deficiency?

Worldwide, approximately 1 in 2,500 individuals has Alpha-1 Antitrypsin Deficiency. This disorder is found in all ethnic groups; however, it occurs most frequently in whites of European ancestry.

  • Have you ever treated someone with this liver disease before?
  • Since Alpha 1 is genetic, should my children be tested?
  • Do I have liver damage?
  • Will I need a liver transplant?
  • Should I see a specialist to check my pulmonary functions?
  • Should I see a specialist to check my cardiac health?
  • Will I need augmentation therapy?
  • What kinds of foods would best help my liver?
  • Can you help me quit smoking?
  • Are there any clinical trials available for my liver disease?

Support Groups Near You

Visit the American Liver Foundation support group page here to find the closest support group to you.

Online Support Groups

Visit the American Liver Foundation online support group at Inspire…

Jack & Gene Johnston

Jack & Gene Johnston

Alpha-1 Antitrypsin Deficiency
Pam C.

Pam C.

Caregiver for Husband… I don’t know if you still need stories related to cirrhosis but my husband’s situation is unique.


Read Pam's Story
A caregiver to her husband with Alpha-1 Antitrypsin Deficiency

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