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Alpha-1 Antitrypsin Deficiency

Also called: AATD, Alpha-1, Inherited emphysema
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Summary

Alpha-1 antitrypsin deficiency (AAT deficiency) is an inherited condition that raises your risk for lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver makes it. If the AAT proteins aren't the right shape, they get stuck in the liver cells and can't reach the lungs.

Symptoms of AAT deficiency include

  • Shortness of breath and wheezing
  • Repeated lung infections
  • Tiredness
  • Rapid heartbeat upon standing
  • Vision problems
  • Weight loss

Some people have no symptoms and do not develop complications.

Blood tests and genetic tests can tell if you have it. If your lungs are affected, you may also have lung tests. Treatments include medicines, pulmonary rehab, and extra oxygen, if needed. Severe cases may need a lung transplant. Not smoking can prevent or delay lung symptoms.

NIH: National Heart, Lung, and Blood Institute

Start Here

  • (American Liver Foundation)
  • From the National Institutes of Health (National Heart, Lung, and Blood Institute)
  • From the National Institutes of Health (National Human Genome Research Institute)

Symptoms

  • From the National Institutes of Health (National Heart, Lung, and Blood Institute)

Diagnosis and Tests

  • (American Association for Clinical Chemistry)
  • From the National Institutes of Health (National Heart, Lung, and Blood Institute)

Treatments and Therapies

  • From the National Institutes of Health (National Heart, Lung, and Blood Institute)

Living With

  • From the National Institutes of Health (National Heart, Lung, and Blood Institute)

Related Issues

  • (National Jewish Health) - PDF
  • From the National Institutes of Health (National Heart, Lung, and Blood Institute)
  • From the National Institutes of Health (National Heart, Lung, and Blood Institute)

Genetics

  • From the National Institutes of Health (National Library of Medicine)
  • From the National Institutes of Health (National Heart, Lung, and Blood Institute)

Clinical Trials

  • From the National Institutes of Health (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

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  • From the National Institutes of Health

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