Alpha 1 Anti-Trypsin Deficiency

(AAT Deficiency; Alpha-1 Antiprotease Deficiency)

Definition

Alpha 1 anti-trypsin (AAT) deficiency is a rare genetic disorder that causes the enzyme AAT to not work well. It can cause lung and liver disease in children and adults.

Causes

AAT deficiency is an inherited disorder. It is passed from parents to children. This condition occurs when the liver does not make useful AAT. AAT is a protein that protects the lungs and other organs from damage. When functional AAT levels are too low, lung damage may occur.People with AAT deficiency can also develop liver disease. AAT deficiency is one of the major causes of genetic liver disease in children. The liver makes an abnormal version of AAT protein that builds up in the liver. This blockage can damage liver cells. In some cases, severe liver damage can occur.

Risk Factors

If either of your parents have the gene for AAT deficiency, you are at risk of developing problems due to the disease. If both your parents carry the gene, you are at higher risk of having severe problems.

Symptoms

The first symptoms of the disease often appear in adulthood between the ages of 20-50 years:
  • Shortness of breath during mild activity
  • Coughing up sputum (mucus from deep in the lungs)
  • Wheezing
  • Weight loss
  • Lung disease that affects the air sacs—emphysema
  • Raised red spots on the skin—panniculitis
In addition, if the liver is affected in adults, the following symptoms may be present:
  • Itching
  • Yellowing of the skin and/or whites of the eyes—jaundice
  • Vomiting
  • Swollen abdomen
  • Abdominal pain
Symptoms in children can occur in the first weeks of life or later in childhood.
  • Infants:
  • Older children:
    • Fatigue
    • Poor appetite
    • Swollen abdomen

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