Alpha-1 antitrypsin deficiency (AATD)

AAT protects lung tissue from protease-induced damage¹¹

AAT plays a key role in protecting the lungs by¹¹:


• Inhibiting neutrophil elastase and dampening pro-inflammatory cytokine production
• Reducing cellular damage from reactive oxygen species (ROS)
• Supporting immunomodulatory pathways that help protect tissues from unchecked inflammatory activity

Genotypes and resultant AAT levels contribute to increased risk of irreversible lung disease^4,6

• Genotype determines how much AAT protein a person produces⁴
• Below-normal AAT levels increase susceptibility to faster disease progression^4,12
• Can lead to progressive lung damage, which may result in COPD and emphysema⁶
• Lung decline can be further accelerated by behavioral factors such as smoking, as well as environmental factors such as air pollution and dust^7-9
• Those with certain genotypes may also experience liver disease and vasculitis¹¹

Lower AAT levels are associated with higher risk of AATD-associated emphysema¹³

^bAAT levels may also be measured in mg/dL.

Data from Mulkareddy V et al. Am J Med Sci. 2024;368(1):1-8.

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Emphysema is the most common underlying cause of mortality in patients with severe deficiency of AAT¹⁴

Underlying causes of death among 118 patients with severe deficiency of AAT (defined as serum level <11 µmol/L). Of the 118 patients, 13.7% were never-smokers and 86.3% were ever-smokers (National Heart, Lung, and Blood Institute Registry 1989-1992).¹⁴
 
Data from Stoller JK et al. Chest. 2005;127(4):1196-1204.

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Clinical presentation of AATD overlaps with COPD, making diagnosis challenging¹⁵

Symptoms include^4,16,17:

• Shortness of breath during daily activities
• Wheezing
• Decreased ability to exercise
• Excessive mucus production when coughing

Patients may also present with^4,17:

• Asthma
• Bronchiectasis
• Bronchial hyperresponsiveness

ATS/ERS and GOLD guidelines recommend that all patients with COPD be tested for AATD^1,4

Clinical presentation by itself is not enough to determine which patients with COPD may be living with AATD. Genetic and AAT protein level testing are definitive ways to achieve a diagnosis.^12,15

Clinical practice guidance on testing for AATD (ATS/ERS, GOLD)^1,4:

• All patients with a diagnosis of COPD
• Symptomatic individuals^b
• First-degree relatives of patients diagnosed with AATD

^bSymptoms that warrant testing for AATD include emphysema, asthma, unexplained chronic liver disease, necrotizing panniculitis, granulomatosis with polyangiitis, unexplained bronchiectasis, smoking exposure, and occupational exposure.^4,12

AATD testing is widely available (including sponsored testing at no charge).^c

^cThis is not an endorsement of any specific lab. Testing options can be found at https://www.ncbi.nlm.nih.gov/gtr/. Sanofi does not review or control the content of non-Sanofi websites. Consult each laboratory for a full range of options. Content is current at time of publication, and testing may not be available in all states; please call laboratory to confirm test availability, sample shipping information, and all other logistics. This listing does not constitute an endorsement by Sanofi.

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