Fabry Disease Epidemiology

Key Highlights

• Fabry disease is a rare X-linked genetic disorder caused by alpha-galactosidase gene mutations, leading to globotriaosylceramide accumulation and symptoms ranging from pain and gastrointestinal issues to severe complications like kidney failure, heart failure, and stroke. It affects 1 in 1,000 to 40,000 people globally, with late-onset cases being more common.
• There were nearly 17,650 diagnosed prevalent cases of Fabry disease in 7MM in 2024. Among these, the US accounted for the highest number of diagnosed prevalent cases of Fabry disease.
• The diagnosed prevalent patient population for Fabry disease in EU4 and the UK was approximately 6,800 patients in 2024.
• The diagnosed prevalent cases of Fabry disease in the 7MM vary according to gender, with diagnosed prevalent cases higher in females than in males.
• In 2024, the distribution of Fabry disease cases shows a higher diagnosed prevalence of the late-onset type compared to the classic type in the US.

DelveInsight’s “Fabry Disease – Epidemiology Forecast – 2034” report delivers an in-depth understanding of Fabry disease, historical and forecasted epidemiology in the United States, EU4 (Germany, France, Italy, and Spain), and the United Kingdom, and Japan.

Geography Covered

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom\
• Japan

Study Period: 2021-2034

Fabry Disease Understanding

Fabry Disease Overview

Fabry disease is a rare, inherited disorder that affects the body’s ability to break down certain fatty substances due to a deficiency of the enzyme Alpha-galactosidase A (α-Gal A). This genetic mutation leads to the accumulation of Globotriaosylceramide (GL-3) in cells throughout the body, causing progressive damage to vital organs, including the heart, kidneys, and nervous system. Symptoms often begin in childhood and can include burning pain in the hands and feet, skin lesions (angiokeratomas), digestive issues, and an inability to sweat properly. 

As the disease advances, it increases the risk of serious complications such as kidney failure, heart disease, and stroke. Early diagnosis and management are crucial in reducing long-term complications and enhancing patient outcomes.

Fabry Disease Diagnosis

Diagnosing Fabry disease can be challenging due to its wide range of symptoms, which often overlap with other conditions. A definitive diagnosis typically involves a combination of clinical evaluation, laboratory testing, and genetic analysis. In males, an enzyme assay measuring  α-Gal A activity in the blood can confirm the deficiency. However, since some females with Fabry disease may have normal enzyme levels, genetic testing of the GLA gene is recommended for both men and women to identify disease-causing mutations.

Additional tests, such as kidney function assessments, heart evaluations (ECG, echocardiogram), and MRI scans, may be used to detect organ damage associated with the disease. Early and accurate diagnosis is essential for timely intervention, allowing for better disease management and improved long-term outcomes.

Further details related to diagnosis will be provided in the report…

Fabry Disease Epidemiology

The Fabry disease epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by total diagnosed prevalent cases of Fabry disease, gender-specific diagnosed prevalent cases of Fabry disease, age-specific diagnosed prevalent cases of Fabry disease, and phenotype-specific diagnosed prevalent cases of Fabry disease, in the 7MM covering the US, EU4 (Germany, France, Italy, Spain) and the UK, and Japan from 2021 to 2034.

• The total diagnosed prevalent cases of Fabry disease in the US were around 9,200 cases in 2024. 
• The US contributed to the largest diagnosed prevalent population of Fabry disease, acquiring ~52% of the 7MM in 2024. Whereas EU4 and the UK, and Japan accounted for around 38% and 10% of the total population share, respectively, in 2024.
• Among the EU4 countries, Germany accounted for the largest number of diagnosed prevalent Fabry disease (~2,170 cases) cases, followed by the UK, whereas Spain accounted for the lowest number of cases in 2024.
• The phenotype-specific diagnosed prevalent cases are unevenly distributed across the 7MM. Japan has a higher number of diagnosed prevalent cases of late-onset Fabry disease compared to classic cases, whereas Europe has a greater number of classic cases than late-onset ones.
• According to DelveInsight estimates, in 2024, among the age-specific diagnosed prevalent cases of Fabry disease in the US, the highest number of cases was in the 10–19 years age group (~1,920), while the lowest number of cases was seen in <10 years and ≥50 years age group.

Fabry Disease Report Insights

• Patient population
• Country-wise epidemiology distribution

Fabry Disease Report Key Strengths

• Ten years forecast
• 7MM coverage 
• Fabry disease epidemiology segmentation

Explore the evolving Fabry Disease Market trends, key players, and future outlook.

FAQs

• What are the disease risks, burdens, and unmet needs of Fabry disease? What will be the growth opportunities across the 7MM concerning the patient population with Fabry disease?
• What is the historical and forecasted Fabry disease 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 around the diagnostic challenges to overcome barriers in the future.
• Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.