AATD burdens patients, caregivers, and the greater healthcare system^1-6

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Alpha-1 antitrypsin deficiency (AATD) imposes an economic and emotional burden^3-6
AATD is associated with increased hospitalizations and healthcare costs compared to chronic obstructive pulmonary disease (COPD) without AATD^5,6
Progression of AATD leads to worsening COPD burden and quality of life^7-9
Emotional burden impacts patients and loved ones who assume the caregiver role^3,4

AATD carries a distinct economic burden compared with COPD without AATD⁵

AATD-related COPD (n=742) carries a greater clinical and economic burden than COPD without AATD (n=7420)⁵

Pre-Index Pulmonary Events⁵

Post-Index All-Cause Healthcare Spending⁵

Post Index healthcare spending bar chart

Retrospective observational study using administrative claims data from the Humana Research Database.⁵

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According to retrospective analyses of claims data^5,6:

Costs doubled in AATD-related COPD vs similar patients with COPD without AATD (n=953)⁶
Higher COPD-specific inpatient admissions and ED visits in AATD-related COPD vs COPD without AATD⁵
Higher annual all-cause spending vs COPD alone ($19,375 vs $11,113; P<0.001)⁵

Higher healthcare utilization and spending underscore the importance of timely identification and management of AATD-related COPD.^5,6

Progression of AATD leads to worsening COPD burden and quality of life for patients.^7-9

Explore the impact

How does AATD impact patients and their family?

The physical and emotional burdens can have a significant impact on quality of life^1-4

AATD can negatively impact patients with AATD and their immediate family members^1-4

What are the emotional burdens associated with AATD?

Patients with AATD may face exacerbations, breathlessness, fatigue, and cognitive difficulties, affecting daily activities and mobility^1,2
Depression, loss of control, and anxiety add to the emotional burden, even in asymptomatic individuals^3,4

What lifestyle burdens are associated with AATD?

Lifestyle adaptations, including occupational changes and family planning concerns, complicate daily life^3,4,10
Need for treatment, nutrition challenges, and sleep disturbances add to the burden of managing AATD^3,11,12

When does AATD exert its greatest impact on patients’ daily lives and responsibilities?

AATD often presents during the working lives of affected individuals^4,10
It may coincide with the need to care for children and/or elderly parents, adding to the emotional burden for patients⁴

How are caregivers impacted by the burden of AATD?

Caregivers may experience anxiety, stress, and despair as family members struggle with AATD and they may face constraints on their time, which can impact their work and social lives.⁴

How does the burden of AATD extend to family members?

Family members of patients with AATD may feel guilty that their own genetic makeup may be responsible for passing on the disease, and many report fears for future generations of their family.¹³

Talk to your patients about how AATD is impacting their daily life to gain a more comprehensive clinical picture.

AAT protein icon with a downward arrow representing lower levels

Mechanism of Disease

AATD is an inherited disease that causes systemic inflammation.^7,14

Explore the impact →

Genotypes & AAT Levels

Understanding risk begins with defining the underlying genetics and resulting deficiency of AAT protein.^3,15

Review the data →

Frequently asked questions

How does AATD contribute to healthcare burden compared with COPD without AATD?

What drives the increased economic burden in AATD?

Why is early identification of AATD clinically and economically important?

What is the impact of AATD progression on quality of life?

Definitions: AAT=alpha-1 antitrypsin; AATD=alpha-1 antitrypsin deficiency; COPD=chronic obstructive pulmonary disease.

References: 1. Choate R, Holm KE, Sandhaus RA, et al. Health-related quality of life in alpha-1 antitrypsin deficiency–associated chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 2023;208(10):1132-1134. 2. Choate R, Holm KE, Sandhaus RA, Mannino DM, Strange C. Characteristics associated with SF-36 in alpha-1 antitrypsin deficiency-associated COPD: a cross-sectional analysis. BMC Pulm Med. 2024;24(1):138. doi:10.1186/s12890-024-02953-7 3. 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. 4. U.S. Food and Drug Administration. The Voice of the Patient: Patient-Focused Drug Development for Alpha-1 Antitrypsin Deficiency; Public Meeting September 29, 2015; Report Date September 2016. Silver Spring, MD: U.S. Food and Drug Administration; 2016. 5. Khandelwal N, Hinson J, Nguyen T, et al. Clinical and economic outcomes in patients with alpha-1 antitrypsin deficiency in a US Medicare advantage population. J Health Econ Outcomes Res. 2025;12(1):66-74. 6. Sieluk J, Slejko J, Silverman H, et al. Medical costs of alpha-1 antitrypsin deficiency-associated COPD in the United States. Orphanet J Rare Dis. 2020;15(1):260. 7. Kalfopoulos M, Wetmore K, ElMallah MK. Pathophysiology of alpha-1 antitrypsin lung disease. In: Borel F, Mueller C, eds. Alpha-1 Antitrypsin Deficiency: Methods in Molecular Biology. Humana Press; 2017:9-20. In: Borel F, Mueller C, eds. Humana Press; 2017:9-20. 8. Meseeha M, Sankari A, Attia M. Alpha-1 antitrypsin deficiency. In: StatPearls [Internet]. Accessed March 4, 2026. https://www.ncbi.nlm.nih.gov/books/NBK442030/ 9. Campos MA, Alazemi S, Zhang G, et al. Exacerbations in subjects with alpha-1 antitrypsin deficiency receiving augmentation therapy. Respir Med. 2009:103(10)1532-1539. 10. Stoller JK, Smith P, Yang P, et al. Physical and social impact of alpha-1 antitrypsin deficiency: results of a survey. Cleve Clin J Med. 1994;61(6):461-467. 11. Megenhardt L, Ransdell S, Clark-LoCascio J, et al. Relationship between alpha-1 antitrypsin deficiency and obstructive sleep apnea. Sleep Breath. 2021;25(4):2091-2097. 12. Holm KE, Sandhaus RA, Allison S, et al. Sleep apnea among individuals with alpha-1 antitrypsin deficiency-associated lung disease. Respir Med. 2025;246:108217. 13. Smith DJ, Ellis PR, Turner AM. Exacerbations of lung disease in alpha-1 antitrypsin deficiency. Chronic Obstr Pulm Dis. 2021;8(1):162-176. 14. Mazzuca C, Vitiello L, Travaglini S, et al. Immunological and homeostatic pathways of alpha-1 antitrypsin: a new therapeutic potential. Front Immunol. 2024;15:1443297. doi:10.3389/fimmu.2024.1443297 15. Feitosa PHR, de Oliveira Castellano MVC, da Costa CH, et al. Recommendations for the diagnosis and treatment of alpha-1 antitrypsin deficiency. J Bras Pneumol. 2024;50(5):e20240235. doi:10.36416/1806-3756/e20240235

AATD burdens patients, caregivers, and the greater healthcare system1-6

AATD carries a distinct economic burden compared with COPD without AATD5

AATD-related COPD (n=742) carries a greater clinical and economic burden than COPD without AATD (n=7420)5

Pre-Index Pulmonary Events5

Post-Index All-Cause Healthcare Spending5

According to retrospective analyses of claims data5,6:

Higher healthcare utilization and spending underscore the importance of timely identification and management of AATD-related COPD.5,6

Progression of AATD leads to worsening COPD burden and quality of life for patients.7-9