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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
AAT deficiency

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Description

Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that affects the lungs and liver. It is caused by a deficiency of the protein alpha-1-antitrypsin (AAT), which is produced in the liver and helps protect the lungs from damage. People with AATD are at an increased risk of developing lung diseases such as emphysema and chronic obstructive pulmonary disease (COPD). They may also be at risk of developing liver disease, including cirrhosis. AATD is inherited in an autosomal recessive pattern, meaning that both parents must pass on a defective gene in order for the child to be affected. Treatment for AATD typically involves lifestyle changes, such as quitting smoking, and medications to help manage symptoms.

Synonyms
  • alpha-1-antitrypsin deficiency
Basic Lab Tests (measurements)

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