Why should you test for alpha-1?

Because alpha-1 antitrypsin (A1AT) deficiency (also known as alpha-1) is the major known genetic factor for COPD, the American Thoracic Society/European Respiratory Society (ATS/ERS) and World Health Organization (WHO) recommend targeted genetic testing for alpha-1 in all COPD patients1,2.

  • >90% of those with alpha-1 remain undiagnosed3
  • Laboratory testing is the only way to confirm alpha-11,2
  • People carrying 1 Z allele are still at risk although they are not at severe risk4

Once a deficient allele has been ascertained, different measures should be considered5,6:

  • Smoking prevention or cessation
  • Minimizing the hazards of occupational respiratory pollutants
  • Ensuring that the management of the disease is optimized
  • The potential for family testing
  • Whether augmentation therapy is appropriate for the patient

A simple test can accurately rule out alpha-16

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For more information about alpha-1 treatment options go to Treat and support your Alpha-1 patient

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  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. World Health Organization. alpha-1 antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ. 1997;75(5):397-415.
  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. Molloy K, Hersh CP, Morris VB, et al. Clarification of the risk chronic obstructive pulmonary disease in alpha-1-antitrypsin deficiency PiMZ heterozygotes. Am J Respir Crit Care Med 2014;189:419-427.
  5. Rachelefsky G, Hogarth DK. Issues in the diagnosis of αlpha-1 antitrypsin deficiency. J Allergy Clin Immunol. 2008;121(4):833-838.
  6. Bals R, Koczulla R, Kotke V, et al. Identification of individuals with alpha-1 antitrypsin deficiency by a targeted screening program. Respir Med. 2007;101(8):1708-1714.

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