Alpha-1 Antitrypsin Deficiency Epidemiology Forecast

• According to DelveInsight’s analysis, the total prevalent cases of AATD were ~ 227,000 in the 7MM (the United States, the EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan) in 2025.
• AATD is a hereditary disorder characterised by low levels of a protein called Alpha-1 Antitrypsin (A1AT), which is found in the blood. This deficiency may predispose an individual to several illnesses and most commonly manifests as Chronic Obstructive Pulmonary Disease (COPD) (including bronchiectasis) and liver disease (especially cirrhosis and hepatoma), or more rarely, as a skin condition called panniculitis. 
• AATD is a genetic disorder that manifests as lung and/or liver disease. Because symptoms of AATD overlap with those of common pulmonary and hepatic conditions, AATD is often misdiagnosed, which has resulted in substantial underdiagnosis of AATD worldwide.
• Secondary studies estimate that the prevalence of AATD in the United States and Europe ranges from 1 in 2,500 to 1 in 5,000 for the PI*ZZ genotype in the general population, while highlighting that only a small proportion of affected individuals have been formally diagnosed.
• AATD with the MZ genotype, present in approximately 3.5% of the global population and affecting over 35 million individuals, is frequently underdiagnosed, with its symptoms often overlooked or misinterpreted. 
• Approximately 15% of individuals with Alpha-1 develop cirrhosis, and overall, about 1 in 10 develop liver disease due to AATD. 

Alpha-1 Antitrypsin Deficiency (AATD) Epidemiology Forecast in the 7MM

• 2025 Alpha-1 Antitrypsin Deficiency (AATD) Prevalent Cases: ~227,000
• 2036 Projected Alpha-1 Antitrypsin Deficiency (AATD) Prevalent Cases: XXX
• Alpha-1 Antitrypsin Deficiency (AATD) Growth Rate (2026–2036): XX% CAGR

DelveInsight's ‘Alpha-1 Antitrypsin Deficiency (AATD) – Epidemiology Forecast – 2036’ report delivers an in-depth understanding of AATD, historical and forecasted epidemiology in the United States, EU4 (Germany, Spain, Italy, and France) and the United Kingdom, and Japan.

Alpha-1 Antitrypsin Deficiency (AATD) Understanding and Diagnosis Algorithm

Alpha-1 Antitrypsin Deficiency (AATD) Overview and Diagnosis

AATD is an inherited disorder marked by low levels of alpha-1 antitrypsin, a protein that protects tissues from enzyme damage. The condition most commonly leads to lung diseases such as COPD, including emphysema and bronchiectasis, and liver diseases such as cirrhosis and hepatocellular carcinoma. In rare cases, it may also present as a skin condition called panniculitis. The deficiency allows proteolytic enzymes to damage tissues, particularly the lungs, resulting in progressive destruction of alveoli. It can also cause liver damage due to the accumulation of abnormal protein in liver cells. Disease progression is often accelerated by smoking and environmental or occupational exposures.

Alpha-1 Antitrypsin Deficiency (AATD) Diagnosis

Diagnosis is typically made using a combination of blood tests and genetic testing. The first step involves measuring serum alpha-1 antitrypsin levels, where low levels indicate possible deficiency. This is confirmed through genotyping or phenotyping to identify variants such as PIZZ or PIMZ. Additional assessments, like liver function tests and pulmonary function tests, help evaluate disease impact. Early diagnosis is especially important in patients with unexplained COPD, liver disease, or a family history of AATD.

Further details are provided in the report.

Alpha-1 Antitrypsin Deficiency (AATD) Epidemiology

Key Findings from Alpha-1 Antitrypsin Deficiency (AATD) Epidemiological Analysis and Forecast 

• Based on DelveInsight's assessment in 2025, the 7MM had ~227,000 prevalent cases of AATD. These are expected to rise due to the rising prevalence of respiratory illnesses, particularly COPD and liver diseases associated with AATD. 
• Among the 7MM, the US accounted for the highest number (~60%) of diagnosed prevalent AATD cases in 2025. 
• In 2025, among the EU4 and the UK, the UK had the highest diagnosed prevalent cases of AATD, which accounted for around 10% of the total AATD cases in the 7MM, followed by Germany and others.
• In the US, with approximately 10,200 cases, Pi*ZZ was the most common genotype, followed by Pi*SZ, with approximately, and other (PiMZ, SS, etc.) genotypes in 2025. These cases are expected to increase during the study period. 
• The prevalence of AATD in Japan is significantly lower than in Europe and the United States. 
• Since AATD's symptoms might be mistaken for those of other illnesses, including asthma and COPD, it is frequently misdiagnosed and unnoticed, particularly in the early stages of the disease. Data suggests that the majority of AATD patients go undiagnosed (upto 90%); about 5–10% of AATD patients receive a diagnosis. 
• In the US, among AATD-associated comorbid cases, lung disease accounts for the majority (~75%), followed by other diseases, while liver disease represents the smallest proportion (~8%).

Numbers are subject to change with report updation, clinical information updates, etc.

Scope of the Report

• The report covers a segment of an executive summary, a descriptive overview of Alpha-1 Antitrypsin Deficiency (AATD), explaining its causes, signs and symptoms, and pathogenesis.
• Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of the diagnosis rate, and disease progression.

Report Insights

Alpha-1 Antitrypsin Deficiency (AATD) Patient Population Forecast

Report Key Strengths

• Epidemiology‑based (Epi‑based) Bottom‑up Forecasting
• 11-year Forecast 
• Patient Burden Trends (by geography)

FAQs

• What are the disease risks, burdens, and unmet needs of Alpha-1 Antitrypsin Deficiency (AATD)? What will be the growth opportunities across the 7MM concerning the patient population with Alpha-1 Antitrypsin Deficiency (AATD)?
• What is the historical and forecasted Alpha-1 Antitrypsin Deficiency (AATD) patient pool in the US, EU4 (Germany, France, Italy, and Spain), the UK, and Japan?

Reasons to Buy

• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• To understand key opinion leaders’ perspectives on the diagnostic challenges to overcome barriers in the future.
• Detailed insights into various factors hampering disease diagnosis and other existing diagnostic challenges.