Alpha-1 symptoms overlap with COPD and asthma

At first glance, alpha-1-antitrypsin (A1AT) deficiency (also known as alpha-1) presents with respiratory symptoms that are consistent with conventional
COPD or asthma. Alpha-1 related lung symptoms may include1:

  • Exercise-induced dyspnea
  • Chronic cough
  • Excess mucus production
  • Wheezing (with or without respiratory infection)

The presence of alpha-1 related lung symptoms does not distinguish alpha-1 from other common lung diseases.

  • There are no definitive physical symptoms that confirm alpha-12
  • As a result, most individuals with alpha-1 remain undiagnosed3
 

Early testing for alpha-1 is key

  • The lower the serum A1AT level is, the greater the risk of emphysema in alpha-12
  • Serious consequences of alpha-1 include1:
    • Early functional impairment of the lung (eg, early-onset emphysema)
    • Reduced life expectancy
  • Laboratory testing is the only way to confirm alpha-1
    • Physicians should consider alpha-1 in their differential diagnosis
    • An alpha-1 test is the only diagnostic tool that can absolutely differentiate between COPD vs genetic COPD due to alpha-14

References

  1. American Thoracic Society/European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900.
  2. Rachelefsky G, Hogarth DK. Issues in the diagnosis of αlpha-1 antitrypsin deficiency. J Allergy Clin Immunol. 2008;121(4):833-838.
  3. Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with alpha-1 antitrypsin deficiency between 1968 and 2003. Chest. 2005;128(3):1179-1186.
  4. Alpha-1 Foundation. What is Alpha-1? http://alpha-1foundation.org/what-is-alpha-1/ . Accessed July 14, 2016.

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