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Inherited Liver Diseases

What Are the Symptoms of Alpha-1 Antitrypsin Deficiency?

The first symptoms of alpha-1 antitrypsin deficiency will usually be symptoms of its effects on the lungs, including shortness of breath or wheezing. Unexplained weight loss and a barrel-shaped chest, which is commonly associated with the presence of emphysema, are also signs of the condition. As the disease progresses, symptoms typical of emphysema or cirrhosis may appear. and include:

  • Fatigue
  • Chronic cough
  • Swelling of the ankles and feet
  • Jaundice (yellowing of the skin)
  • Fluid in the abdomen (ascites)

How Is Alpha-1 Antitrypsin Deficiency Diagnosed and Treated?

Physical signs, such as a barrel-shaped chest and respiratory problems, may lead your doctor to suspect alpha-1 antitrypsin deficiency. A blood test that tests specifically for the alpha-1 antitrypsin protein will help confirm the diagnosis.

There is no established treatment to cure alpha-1 antitrypsin deficiency but it can be treated by replacing the protein in the bloodstream. However, experts are not clear on how effective this technique is and who should receive it. Other approaches to treating alpha-1 antitrypsin deficiency involve treating the complications such as emphysema and cirrhosis. This includes antibiotics to combat respiratory infections, inhaled medication to make breathing easier, and diuretics and other measures to reduce any fluid build up in the abdomen.

Personal behavior, such as avoiding alcohol, quitting smoking, and eating a healthy diet, can also help keep symptoms and complications from becoming severe. Your health care provider or dietitian can recommend a diet that is right for you.

Because the disease affects the lungs, people with the condition are more prone to respiratory infections. Therefore both flu and pneumonia vaccinations are recommended to help prevent these infections. If you feel you are developing a cold or cough, contact your health care provider immediately so treatment can begin as soon as possible. Occasionally the lungs or liver deteriorates despite treatment. In such cases, a liver transplant may be needed.

What Is the Prognosis for People With Inherited Liver Diseases?

With proper treatment, hemochromatosis and alpha-1 antitrypsin deficiency disease are usually not fatal. However, complications associated with the diseases can be. It is very important that people with inherited liver diseases do all they can to stay healthy.

WebMD Medical Reference

Reviewed by Kimball Johnson, MD on September 19, 2012
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