INTRODUCING
EPIDEMIOLOGY OF GAUCHER DISEASE
Gaucher disease is a rare, inherited metabolic disorder and is classified as a type of lysosomal storage disease known as sphingolipidosis.
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
- Nalysnyk L, Rotella P, Simeone JC, et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology 2017; 22: 65-73.
- Zimran A, Gelbart T, Westwood B, et al. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet 1991; 49: 855-859.
- Zimran A, Elstein D. Gaucher disease and related lysosomal storage diseases. In: Kaushansky K, Lichtman M, Prchal J, et al., eds. Williams Hematology. 9th ed; New York, NY: McGraw-Hill, 2016.
- Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000; 160: 2835-2843.
- Burrow TA, Barnes S, Grabowski GA. Prevalence and management of Gaucher disease. Pediatric Health Med Ther 2011; 2: 59-73.
- Ida H, Rennert OM, Iwasawa K, et al. Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation. Hum Genet 1999; 105: 120-126.
- Giraldo P, Alfonso P, Irún P, et al. Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula. Orphanet J Rare Dis 2012; 7: 17.
- Stirnemann J, Vigan M, Hamroun D, et al. The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients. Orphanet J Rare Dis 2012; 7: 77.
- Poupětová H, Ledvinová J, Berná L, et al. The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis 2010; 33: 387-396.
- Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999; 105: 151-156.
- Pinto R, Caseiro C, Lemos M, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 2004; 12: 87-92.
- Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249-254.
- Horowitz M, Pasmanik-Chor M, Borochowitz Z, et al. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population. Hum Mutat 1998; 12: 240-244.
- Zimran A, Belmatoug N, Bembi B, et al. Demographics and patient characteristics of 1209 patients with Gaucher disease: descriptive analysis from the Gaucher Outcome Survey (GOS). Am J Hematol 2018; 93: 205-212.
- Baris HN, Cohen IJ, Mistry PK. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev 2014; 12 Suppl 1: 72-81.