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Inherited Liver Diseases

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Alpha-1 Antitrypsin Deficiency

In this inherited liver disease an important liver protein known as alpha-1 antitrypsin is either lacking or exists in lower than normal levels in the blood. People with alpha-1 antitrypsin deficiency are able to produce this protein; however, the disease prevents it from entering the bloodstream and it instead accumulates in the liver.

Alpha-1 antitrypsin protein protects the lungs from damage due to naturally occurring enzymes. When the protein is too low or non-existent, the lungs can become damaged, leading to difficulty breathing and, in many people with the condition, emphysema. People with this disease are also at risk of developing cirrhosis.

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, can also be signs of the condition. As the disease progresses, symptoms typical of emphysema or cirrhosis 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 medication to reduce any fluid buildup 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.

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