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Diseases

Alpha-1 Antitrypsin Deficiency

Some patients with liver damage can have underlying systemic diseases, which may also affect liver function. Knowledge of liver involvement in systemic diseases is important for the accurate diagnosis of the liver damage and guide appropriate treatment.

Alpha-1 antitrypsin deficiency (Alpha-1) is a rare hereditary disorder which may lead to the development of lung and/or liver disease. It is the most common genetic defect of liver disease seen in children, and occurs in 1 in 2,500 individuals

  • Adults can also be affected by Alpha-1 and may develop lung conditions such as emphysema as well as liver problems
  • Affects males and females equally

Alpha-1 antitrypsin is a protein produced by the liver, which plays an important role in preventing the breakdown of enzymes in various organs. A genetic defect prevents the body from creating enough of this protein. Alpha 1 must be inherited from both parents, who are carriers and pass on the disorder to their child.

    Symptoms

    During the first two to three decades of life, alpha 1 is primarily a liver disorder and can present with the typical symptoms of liver disease:

    • Yellowing of the skin and whites of eyes (jaundice)
    • Liver enlargement
    • Poor feeding
    • In late childhood or adulthood
    • Fatigue
    • Poor appetite
    • Swelling of the abdomen and legs

    Lung disease presents typically after the third decade of life

    Diagnosis

    • Blood tests show low levels of alpha-1 antitrypsin and abnormal liver tests
    • Lung function tests to asses lung involvement/damage
    • Ultrasound imaging will show enlarged liver, CT of lungs may be needed
    • Liver biopsy may be performed to check for damage to the liver. Liver biopsy is a procedure by which the doctor removes a tissue sample directly from the liver through the insertion of a thin long needle to extract the sample. The tissue is sent for analysis in the laboratory and under the microscope.

    Treatment

    The goal is to maintain normal nutrition to the liver with essential nutrients, and to identify complications early

    • Multiple vitamins and vitamins E, D, and K are often given
    • Symptomatic treatment is provided for jaundice, severe itching, and fluid retention by medications
    • The damage to the liver cells may lead to cirrhosis and the need for liver transplantation. These individuals may or may not have coexisting lung disease. Despite a successful new liver, the lung disease can still decline to a level where lung transplant may also be considered. Ongoing studies are exploring the impact of liver transplantation with resulting normalization of serum alpha1 levels and how to also improve lung function outcomes.