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Therapeutic Areas and Products

Respiratory

Disease State and Prevalence

A1AT deficiency (AATD) results in uninhibited neutrophil elastase activity, and this imbalance can lead to lung damage, including emphysema.

  • Caused by low levels of alpha1 antitrypsin (A1AT), a protein synthesized and secreted by the liver
  • A1AT protects the lungs from infection and lung diseases such as emphysema and COPD
  • More than 20 million individuals in the United States possess the genetically deficient alleles that cause Alpha-1 antitrypsin deficiency
  • Affects up to 5% of the approximately 12 million patients with COPD in the United States
  • An estimated 100,000 individuals are affected in the United States
  • Over 90% have not been diagnosed, and fewer are being treated
  • Lung-related symptoms usually develop between the ages of 20 and 40
Testing

American Thoracic Society/European Respiratory Society (ATS/ERS) Guidelines for Alpha-1 Testing

Genetic Testing Recommendeda:

  • Symptomatic adults with:
    • Emphysema
    • COPD
    • Asthma with airflow obstruction that is incompletely reversible after aggressive treatment with bronchodilatorsc
  • Individuals with unexplained liver disease
  • Adults with necrotizing panniculitis
  • Asymptomatic adults with persistent obstruction on pulmonary function tests with identifiable risk factors
  • Sibling with a diagnosis of AATD

Genetic Testing Can Be Consideredb:

  • Adults with bronchiectasis without evident etiology
  • Adolescents with persistent airflow obstruction
  • Asymptomatic individuals with persistent airflow obstruction and no risk factors
  • Adults with C-ANCA–positive (antiproteinase 3–positive) vasculitis

a Type A recommendation=genetic testing is recommended.b Type B recommendation=genetic testing should be discussed and could reasonably be accepted or declined.c A type B recommendation for diagnostic testing is offered for populations where the prevalence of AATD is known to be much lower than the general prevalence in North America and Northern Europe.

Management

Earlier screening helps to accurately diagnose Alpha-1, allowing for a treatment plan to be established that may lead to improved outcomes.
Lifestyle changes such as smoking cessation, healthy eating habits, and regular exercise can improve overall health.
A1AT augmentation therapy has been shown to raise and maintain serum levels of A1AT protein.

The Journal of the COPD Foundation states intravenous augmentation therapy in those with AATD is recommended for:

  • Individuals with an FEV1 less than or equal to 65% predicted.
  • For those with lung disease related to AATD and an FEV1 greater than 65%, we recommend discussion of potential benefits of reducing lung function decline with consideration of the cost of therapy and lack of evidence for such benefit.
  • Individuals with necrotizing panniculitis.
Treatment Guidelines

1.National Human Genome Research Institute. About Alpha-1 Antitrypsin Deficiency. https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency. Accessed June 5, 2019. 2.de Serres FJ, Blanco I. Prevalence of a1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review. Ther Adv Respir Dis. 2012;6(5):277-295. 3.Brode SK, Ling SC, Chapman KR. Alpha-1 antitrypsin deficiency: a commonly overlooked cause of lung disease. CMAJ. 2012;184(12):1365-1371.4.Alpha-1 Foundation. Questions and Answers About Alpha-1 Antitrypsin Deficiency (Alpha-1). https://www.alpha1.org/Alpha1/wp-content/uploads/2019/11/Questions-and-Answers-About-Alpha-1.pdf. Accessed June 5, 2019. 5.Siri D, Farah H, Hogarth DK. Distinguishing alpha1-antitrypsin deficiency from asthma. Ann Allergy Asthma Immunol. 2013;111:458-464 6. Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis. 2016;3(3):668-682. 7. Alpha-1 Antitrypsin Deficiency: A Guide for the Recently Diagnosed Individual. Alpha-1 Foundation. Version 1.7, December 2015.

 

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