What is the prevalence of Gaucher disease?

The prevalence of Gaucher disease ranges from 0.70 to 1.75 per 100,000 individuals. The standardised birth incidence of Gaucher disease within the general population varies from 0.39 to 5.80 per 100,000 individuals.1 However, the prevalence of Gaucher disease Type 1 is higher in individuals with Ashkenazi Jewish ethnicity, with a birth incidence of approximately 1 in 850.2,3 Gaucher disease Type 1 is considered more prevalent in Western countries such as Europe, Israel, the US, and other European-derived Caucasian populations.4,5 Gaucher disease Types 2 and 3 primarily occur in non-Western countries, including non-Israeli Middle East, Indian subcontinent, China, Japan and Korea.5,6

A comprehensive literature review of 188 full-text articles and findings from 49 studies was conducted to summarise the published evidence on the epidemiology of Gaucher disease (Figure 1).1

Figure 1.
Worldwide prevalence of Gaucher disease1

Is Gaucher disease more common in males or females?

Gaucher disease can occur in both males and females,14 and the clinical signs of the disease may vary with age at onset.15

A descriptive analysis of the Gaucher Outcome Survey (GOS), an international Gaucher disease registry (sponsored by Shire, now part of Takeda) established in 2010 for patients with a confirmed diagnosis of Gaucher disease (regardless of disease type or treatment status), found that the proportion of males with Gaucher disease was 44.1% (n=533/1209) and the proportion of females was 55.9% (n=676/1209).14

As of 25 February 2017, 11 countries had participated in the survey, and of 1209 patients with Gaucher disease, the proportion of males and females was similar (Figure 2).14

Figure 2.
Proportion of males and females with Gaucher disease from the GOS (N=1209). Reproduced with permission from Zimran A et al. Am J Hematol 2018; 93: 205-212.14

C-ANPROM/INT//7566; Date of preparation: September 2020

 
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The WORLDSymposium™ was held as a hybrid meeting this year (7–11 February 2022) and brought together key opinion leaders from the field of lysosomal disorders and rare diseases.

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Diagnosing Gaucher disease


Early diagnosis is essential in implementing the appropriate patient assessment and management plans as soon as possible.

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Diagnosing Gaucher disease in siblings


Early diagnosis can reduce the likelihood of irreversible organ damage and serious complications, as well as chronic pain and disabling symptoms. Genetic counselling and carrier testing can help to achieve this.

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Gene therapy


New treatment modalities are currently being researched for Gaucher disease. The feasibility of gene therapy for Gaucher disease is currently under investigation.

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BURDEN OF DISEASE

Gaucher disease in the Ashkenazi Jewish population

What is the prevalence of Gaucher disease in the Ashkenazi Jewish population?

The prevalence of Gaucher disease Type 1 is higher in individuals with Ashkenazi Jewish ethnicity compared with the general population, with a birth incidence of approximately 1 in 850. Gaucher disease Types 2 and 3 have been described as rare in the Ashkenazi Jewish population.

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BURDEN OF DISEASE

Genetic inheritance of Gaucher disease

What is the genetic inheritance of Gaucher disease?

Gaucher disease is an autosomal recessive disorder secondary to mutations in the gene that encodes glucocerebrosidase, GBA1.

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BURDEN OF DISEASE

Age at Gaucher disease onset and life expectancy

What is the age at disease onset and life expectancy of patients with Gaucher disease?

The age at onset of Gaucher disease may vary according to Gaucher disease type and genotype.

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