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Alpha-1 Antitrypsin Deficiency and Lung Disease

Early-onset emphysema and COPD due to a hereditary protein deficiency.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Göğüs Hastalıkları department. Book Appointment →

What is Alpha-1 Antitrypsin Deficiency and Lung Disease?

Alpha-1 antitrypsin (AAT) is a protease inhibitor produced in the liver that protects lung parenchyma from the destructive effect of neutrophil elastase. Genetic deficiency is due to mutations in the SERPINA1 gene and is inherited in an autosomal codominant manner.

Without sufficient AAT protection, elastin breakdown in the lungs increases and panacinar emphysema usually develops in the 30s and 40s. Smoking accelerates the onset by years and speeds up progression.

AAT deficiency can also cause liver disease in children and adults. Diagnosis is made by serum AAT level and phenotype/genotype analysis. IV augmentation therapy can be used in treatment.

Symptoms

Dyspnea before age 40
Cough and sputum
Recurrent lower respiratory tract infections
Wheezing
Exercise intolerance
Abnormal liver function tests
Family history of early COPD

Risk Factors

Homozygous PiZZ or PiSZ genotype
Smoking
Occupational dust and fume exposure
Family history of AAT deficiency
Early-onset COPD
Unexplained liver disease
Recurrent necrotizing panniculitis

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • COPD diagnosis at a young age
  • Family history of AAT deficiency
  • Unexplained liver disease
  • Non-smoking patient with emphysema

Treatment Methods

01
IV alpha-1 antitrypsin augmentation therapy
02
Cessation of smoking and other triggers
03
Bronchodilators and inhaled corticosteroids
04
Pulmonary rehabilitation
05
Vaccination (influenza, pneumococcus)
06
Lung transplantation in advanced cases

Which Department to Visit?

You can visit our Göğüs Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Göğüs Hastalıkları Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.