This website contains promotional content and is intended for Healthcare Professionals based in the United Kingdom only. Some content is only relevant to HCPs practising in Great Britain (England, Scotland, Wales). This website is optimised for desktop use, and some features may perform differently on mobile devices.

Adverse event reporting can be found at the bottom of the page.

Campus
  1. Article
  2. Source: Campus Sanofi
  3. 23 Oct 2023

What is Gaucher disease?

Author: Sanofi

Editorial Team

Gaucher disease is one of the most common lysosomal storage disorders, affecting an estimated 1 in 40,000 to 1 in 100,000 people around the world.1 It can be diagnosed at any age from infancy to late adulthood. It is an inherited deficiency of the lysosomal enzyme acid-β-glucosidase (glucocerebrosidase, GBA1), which results in the accumulation of glucocerebroside within lysosomes of macrophages.1

Gaucher disease can be classified into three types, which make a phenotypic continuum ranging from mild to severe nervous symptoms.2–4 The classic categories of types 1, 2, and 3 have blurred edges along the continuum of the disease.

Adapted from Sidransky E, 2004. Mol Genet Metab. 83(1–2):6–15.3

The table summarises aspects of Gaucher disease according to the three different types.1,5

 Type 1 Non neuronopathic(≥1/100 to <1/10)Type 2 Acute neuronopathic (≥1/100 to <1/10)Type 3 Chronic neuronopathic (≥1/100 to <1/10)
Prevalence1:50,000 – 1:100,000 (pan-ethnic)
1:850 (Ashkenazi Jews)		< 1:150,000 (pan-ethnic)< 1:150,000 (pan-ethnic)
Age at presentationAnyInfancyChildhood
LifespanVariable< 2 y< 40 y
Primary CNS diseaseNoneSevereMild to severe
HepatosplenomegalyMild to severeSevereMild to severe
Haematologic
abnormalities		Mild to severeSevereMild to severe
Osseous symptomsMild to severeNoneMild to moderate
References
  1. Mistry PK, et al. Am J Hematol 2011. 86(1):110–115.
  2. Charrow J, et al. Clin Genet 2007. 71(3):211–215.
  3. Sidransky E, et al. Mol Genet Metab. 2004. 83(1–2):6–15.
  4. Sidransky E, et al. Gaucher disease clinical presentation. Updated November
  5. Niederau C. Gaucher Disease 3rd edition. Bremen: Uni-Med, 2017.

MAT-XU-2201084 (v2.0) Date of preparation: October 2023