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Alpha-1 Antitrypsin Deficiency - Epidemiology Forecast - 2032

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    Report

  • 106 Pages
  • January 2024
  • Region: Global
  • DelveInsight
  • ID: 5927499
This ‘Alpha-1 Antitrypsin Deficiency (AATD) - Epidemiology Forecast - 2032' report delivers an in-depth understanding of alpha-1 antitrypsin deficiency, historical and forecasted epidemiology, as well as the trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

Alpha-1 Antitrypsin Deficiency Understanding

Alpha-1 Antitrypsin Deficiency (AATD) is an inherited autosomal codominant genetic disorder characterized by a deficiency of the alpha-1 antitrypsin protein (AAT) that is essential for protecting the lungs and liver from damage caused by enzymes, and its deficiency can lead to serious respiratory and liver-related complications. It is primarily caused by mutations in the SERPINA1 gene that provides instructions for making AAT protein, which protects the body from a powerful enzyme called neutrophil elastase. The most common allele of the SERPINA1 gene, M, produces normal levels of alpha-1 antitrypsin and is present in 85-90% of individuals. Other versions of the SERPINA1 gene lead to reduced levels of AAT. The most prevalent deficiency alleles are S and Z. For example, the S allele produces moderately low levels of this protein, and the Z allele produces very little AAT. Individuals with two copies of the Z allele (ZZ) in each cell will likely have alpha-1 antitrypsin deficiency and are at high risk of developing lung disease and liver disease associated with alpha-1 antitrypsin deficiency. The Z allele is present in almost 90% of severe alpha-1 antitrypsin deficiency cases.

The onset and severity of alpha-1 antitrypsin deficiency symptoms can vary widely among individuals, even those with the same genetic mutations. Some individuals may remain asymptomatic, while others experience significant health challenges. Furthermore, individuals with alpha-1 antitrypsin deficiency are at an increased risk of developing lung conditions such as emphysema and chronic obstructive pulmonary disease (COPD). Symptoms include shortness of breath, chronic cough, wheezing, and reduced exercise tolerance.

Alpha-1 Antitrypsin Deficiency Diagnosis

An early diagnosis of alpha-1 antitrypsin deficiency is essential for preventing disease progression, timely intervention, and optimizing treatment management. Diagnosis typically involves blood tests measuring AAT levels, liver function tests, liver biopsy pulmonary function tests, imaging studies (chest X-rays or CT scans), and genetic testing identifying specific mutations.

Alpha-1 Antitrypsin Deficiency is often missed or delayed diagnosed as COPD, emphysema, chronic bronchitis, or AAT-associated liver disease as they share common respiratory and hepatitis symptoms. Thus, differential diagnosis may identify specific markers in the blood or other biological samples associated with alpha-1 antitrypsin deficiency.

Alpha-1 Antitrypsin Deficiency Epidemiology Perspective

The disease epidemiology covered in the report provides historical as well as forecasted epidemiology segmented by total prevalent cases of alpha-1 antitrypsin deficiency, genotype-specific prevalent cases of alpha-1 antitrypsin deficiency, and comorbidity-associated prevalent cases of alpha-1 antitrypsin deficiency in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2019 to 2032.

Alpha-1 Antitrypsin Deficiency Detailed Epidemiology Segmentation
  • In 2022, there were approximately 220,352 prevalent cases of alpha-1 antitrypsin deficiency in the 7MM. The US accounted for nearly 60% of the total prevalent cases of alpha-1 antitrypsin deficiency in the 7MM, and these cases are expected to increase during the forecast period.
  • As per The epidemiology model, the genotype of alpha-1 antitrypsin deficiency was divided into three groups: PiZZ, PiSZ, and others (including PiMZ and other less common genotypes). In 2022, there were approximately 119,274, 7,316, and 5,937 cases of PiZZ, PiSZ, and other genotypes, respectively. The genotype-specific prevalent cases of alpha-1 antitrypsin deficiency are projected to increase by 2032.
  • In 2022, in the US, comorbidity associated with lung diseases was most common, occurring in around 77% of the total alpha-1 antitrypsin deficiency cases, followed by other diseases occurring in around 15% of the cases, while 8% of the cases had liver diseases. The report estimates that by 2032, these cases are expected to increase.
  • Among EU4 and the UK, the UK accounted for the highest diagnosed prevalent cases of alpha-1 antitrypsin deficiency, around 22,597 cases, while Italy had the least cases of alpha-1 antitrypsin deficiency, nearly 12,219 in 2022.
  • In EU4 and the UK, of the total prevalent cases of alpha-1 antitrypsin deficiency, around 78% were PiZZ genotypes, 10% were PiSZ, and nearly 12% were of other genotypes in 2022. These cases are expected to rise during the forecast period (2023-2032).
  • In EU4 and the UK, comorbidities associated with lung diseases were ranked first with 70,546 cases, followed by other diseases with 8,939 cases, and liver disease with 8,316 cases in 2022.
  • In 2022, Japan accounted for the lowest prevalent cases of alpha-1 antitrypsin deficiency among the 7MM, making up nearly 0.01% of the total cases. The cases are estimated to change during the forecast period.
  • In Japan, lung disease-associated comorbidities in alpha-1 antitrypsin deficiency occurred in around 18 cases, while liver diseases and other diseases were found in nearly two and three cases of alpha-1 antitrypsin deficiency, respectively, in 2022.

Scope of the Report

  • The report covers a descriptive overview of alpha-1 antitrypsin deficiency, explaining its symptoms, pathophysiology, and various diagnostic approaches.
  • The report provides insight into the 7MM historical and forecasted patient pool covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.
  • The report assesses the disease risk and burden of alpha-1 antitrypsin deficiency.
  • The report helps recognize the growth opportunities in the 7MM concerning the patient population.
  • The report provides the segmentation of the disease epidemiology for the 7MM, the total prevalent cases of alpha-1 antitrypsin deficiency, genotype-specific prevalent cases of alpha-1 antitrypsin deficiency, and comorbidity-associated prevalent cases of alpha-1 antitrypsin deficiency.

Report Highlights

  • Ten Years Forecast of Alpha-1 Antitrypsin Deficiency
  • The 7MM Coverage
  • Total Prevalent Cases of Alpha-1 Antitrypsin Deficiency
  • Gender-specific Prevalent Cases of Alpha-1 Antitrypsin Deficiency
  • Comorbidity-associated Prevalent Cases of Alpha-1 Antitrypsin Deficiency

Key Questions Answered

  • What are the disease risks and burdens of alpha-1 antitrypsin deficiency?
  • What is the historical alpha-1 antitrypsin deficiency patient pool in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan?
  • What would be the forecasted patient pool of alpha-1 antitrypsin deficiency at the 7MM level?
  • What growth opportunities will be across the 7MM concerning the patient population with alpha-1 antitrypsin deficiency?
  • Which country would have the highest diagnosed prevalent population of alpha-1 antitrypsin deficiency among the countries mentioned above during the forecast period (2023-2032)?
  • At what CAGR is the population expected to grow across the 7MM during the forecast period (2023-2032)?

Reasons to Buy

The Alpha-1 Antitrypsin Deficiency report will allow the user to:

  • Develop business strategies by understanding the trends shaping and driving the 7MM alpha-1 antitrypsin deficiency epidemiology forecast.
  • The alpha-1 antitrypsin deficiency epidemiology report and model were written and developed by Masters and PhD level epidemiologists.
  • The alpha-1 antitrypsin deficiency epidemiology model developed by the publisher is easy to navigate, interactive with a dashboard, and epidemiology based on transparent and consistent methodologies. Moreover, the model supports the data presented in the report and showcases disease trends over the 10-year forecast period using reputable sources.

Key Assessments

  • Patient Segmentation
  • Disease Risk and Burden
  • Risk of Disease by Segmentation
  • Factors Driving Growth in a Specific Patient Population

Geographies Covered

  • The United States
  • EU4 (Germany, France, Italy, and Spain) and the United Kingdom
  • Japan
Study Period: 2019-2032

Table of Contents

1. Key Insights2. Report Introduction
3. Alpha-1 Antitrypsin Deficiency Epidemiology Overview at a Glance
3.1. Patient Share (%) Distribution of Alpha-1 Antitrypsin Deficiency in 2019
3.2. Patient Share (%) Distribution of Alpha-1 Antitrypsin Deficiency in 2032
4. Methodology of Alpha-1 Antitrypsin Deficiency Epidemiology5. Executive Summary of Alpha-1 Antitrypsin Deficiency
6. Disease Background and Overview
6.1. Introduction to Alpha-1 Antitrypsin Deficiency
6.2. Clinical Manifestations
6.3. Etiology
6.4. Risk Factors
6.5. Pathogenesis
6.6. Diagnosis
6.6.1. Biomarkers
6.6.2. Differential Diagnosis
7. Patient Journey
8. Epidemiology and Patient Population
8.1. Key Findings
8.2. Assumptions and Rationale
8.2.1. Total Prevalent Cases of Alpha-1 Antitrypsin Deficiency
8.2.2. Genotype-specific Prevalent Cases of Alpha-1 Antitrypsin Deficiency
8.2.3. Comorbidity-associated Prevalent Cases of Alpha-1 Antitrypsin Deficiency
8.3. Total Prevalent Cases of Alpha-1 Antitrypsin Deficiency in the 7MM
8.4. The US
8.4.1. Total Prevalent Cases of Alpha-1 Antitrypsin Deficiency in the US
8.4.2. Genotype-specific Prevalent Cases of Alpha-1 Antitrypsin Deficiency in the US
8.4.3. Comorbidity-associated Prevalent Cases of Alpha-1 Antitrypsin Deficiency in the US
8.5. EU4 and the UK
8.5.1. Total Prevalent Cases of Alpha-1 Antitrypsin Deficiency in EU4 and the UK
8.5.2. Genotype-specific Prevalent Cases of Alpha-1 Antitrypsin Deficiency in EU4 and the UK
8.5.3. Comorbidity-associated Prevalent Cases of Alpha-1 Antitrypsin Deficiency in EU4 and the UK
8.6. Japan
8.6.1. Total Prevalent Cases of Alpha-1 Antitrypsin Deficiency in Japan
8.6.2. Genotype-specific Prevalent Cases of Alpha-1 Antitrypsin Deficiency in Japan
8.6.3. Comorbidity-associated Prevalent Cases of Alpha-1 Antitrypsin Deficiency in Japan
9. KOL Views10. Unmet Needs
11. Appendix
11.1. Acronyms and Abbreviations
11.2. Bibliography
11.3. Report Methodology
12. Publisher Capabilities13. Disclaimer14. About the Publisher
List of Tables
Table 1: Summary of Alpha-1 Antitrypsin Deficiency Epidemiology (2019-2032)
Table 2: Symptoms of Alpha-1 Antitrypsin Deficiency Associated Liver Disease by Age Groups
Table 3: Common Genotypes Associated With Alpha-1 Antitrypsin Deficiency
Table 4: Recommendations for the Diagnosis of Alpha-1 Antitrypsin Deficiency by Alpha-1 Foundation
Table 5: Genetic Disorders Associated With Liver Disease in the Differential Diagnosis of Alpha-1 Antitrypsin Deficiency
Table 6: Total Prevalent Cases of Alpha-1 Antitrypsin Deficiency in the 7MM (2019-2032)
Table 7: Total Prevalent Cases of Alpha-1 Antitrypsin Deficiency in the US (2019-2032)
Table 8: Genotype-specific Prevalent Cases of Alpha-1 Antitrypsin Deficiency in the US (2019-2032)
Table 9: Comorbidity-associated Prevalent Cases of Alpha-1 Antitrypsin Deficiency in the US (2019-2032)
Table 10: Total Prevalent Cases of Alpha-1 Antitrypsin Deficiency in EU4 and the UK (2019-2032)
Table 11: Genotype-specific Prevalent Cases of Alpha-1 Antitrypsin Deficiency in EU4 and the UK (2019-2032)
Table 12: Comorbidity-associated Prevalent Cases of Alpha-1 Antitrypsin Deficiency in EU4 and the UK (2019-2032)
Table 13: Total Prevalent Cases of Alpha-1 Antitrypsin Deficiency in Japan (2019-2032)
Table 14: Genotype-specific Prevalent Cases of Alpha-1 Antitrypsin Deficiency in Japan (2019-2032)
Table 15: Comorbidity-associated Prevalent Cases of Alpha-1 Antitrypsin Deficiency in Japan (2019-2032)
List of Figures
Figure 1: Symptoms Associated With Alpha-1 Antitrypsin Deficiency
Figure 2: Panniculitis Associated With Alpha-1 Antitrypsin Deficiency
Figure 3: Other Clinical Manifestations of Alpha-1 Antitrypsin Deficiency
Figure 4: Risk Factors of Alpha-1 Antitrypsin Deficiency
Figure 5: Genetic Inheritance in Alpha-1 Antitrypsin Deficiency
Figure 6: Potential Mechanism for Increased Smoking Induced-disease Risk in Individuals With the PI*MZ Genotype
Figure 7: Mechanism of Damage From Neutrophilic Inflammation in the Alpha-1 Antitrypsin Deficiency Lung
Figure 8: Pathogenesis of Alpha-1 Antitrypsin Deficiency-associated Lung Disease
Figure 9: Pathogenesis of Alpha-1 Antitrypsin Deficiency-associated Liver Disease
Figure 10: Diagnostic and Monitoring Methods for Alpha-1 Antitrypsin Deficiency
Figure 11: Laboratory Diagnosis and Hierarchy of Testing
Figure 12: ATS/ERS Diagnostic Recommendations for Alpha-1 Antitrypsin Deficiency
Figure 13: ATS/ERS Diagnostic Recommendations (not recommended) for Alpha-1 Antitrypsin Deficiency
Figure 14: Patient Journey
Figure 15: Total Prevalent Cases of Alpha-1 Antitrypsin Deficiency in the 7MM (2019-2032)
Figure 16: Total Prevalent Cases of Alpha-1 Antitrypsin Deficiency in the US (2019-2032)
Figure 17: Genotype-specific Prevalent Cases of Alpha-1 Antitrypsin Deficiency in the US (2019-2032)
Figure 18: Comorbidity-associated Prevalent Cases of Alpha-1 Antitrypsin Deficiency in the US (2019-2032)
Figure 19: Total Prevalent Cases of Alpha-1 Antitrypsin Deficiency in EU4 and the UK (2019-2032)
Figure 20: Genotype-specific Prevalent Cases of Alpha-1 Antitrypsin Deficiency in EU4 and the UK (2019-2032)
Figure 21: Comorbidity-associated Prevalent Cases of Alpha-1 Antitrypsin Deficiency in EU4 and the UK (2019-2032)
Figure 22: Total Prevalent Cases of Alpha-1 Antitrypsin Deficiency in Japan (2019-2032)
Figure 23: Genotype-specific Prevalent Cases of Alpha-1 Antitrypsin Deficiency in Japan (2019-2032)
Figure 24: Comorbidity-associated Prevalent Cases of Alpha-1 Antitrypsin Deficiency in Japan (2019-2032)
Figure 25: Unmet Needs