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Alpha-1-Antitrypsin Deficiency

Alpha-1-antitrypsin deficiency (AATD) is an inherited condition resulting in pulmonary emphysema (a lung condition featuring an abnormal accumulation of air leading to destruction of the lung's many tiny air sacs) and liver disease.

Symptoms

• Chronic obstructive pulmonary disease (COPD)
• Emphysema
• Liver disease

Causes/Risk Factors

• Family history of AATD
• 1 or more family members with:
  
  • COPD
  • emphysema
  • cirrhosis
  • hepatocellular carcinoma or liver cancer

Genetic Tests

The following genetic tests may be appropriate based on your personal and/or family history:

• PI Z and S Alleles
• SERPINA1
• Genetic Variants for AATD

Schedule an Appointment

To speak with a board-certified genetic counselor about your risks for this disease:

• Schedule genetic counseling appointment online
• Or call 1-800-975-4819
• Send email

Learn More

National Institutes of Health Genome Research Institute (NIHGRI)

National Institutes of Health Genetics Home Reference(NIH/GHR)

Genereviews