What is Gaucher disease?
Gaucher disease is a rare genetic disorder that is one of a group called lysosomal storage disorders. It is an inherited disorder in which a fatty substance called glucocerebroside builds up in the body’s organs and tissues.
It is caused by deficiency in an enzyme called ‘glucocerebrosidase’.1 In people with Gaucher disease, the gene that would normally tell the body to produce this enzyme is altered (often called a gene mutation).
The main signs and symptoms are an enlarged liver and spleen, low platelet and haemoglobin counts, and problems with bones and joints.
Gaucher disease symptoms vary widely and some people with Gaucher disease do not have any symptoms.
The percentages for types 1–3 shown in the diagram are based on data from around the world,2 but higher percentages of patients are affected by Gaucher disease types 2 and 3 in parts of the Middle East and in Asian countries (including China and Japan).3 For example, a study in Beijing (China) found that 15% of people with Gaucher disease had type 2 and 27% had type 3.4
- Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet 2008 Oct 4;372(9645):1263–1271.
- Charrow J. The Gaucher Registry: Demographics and Disease Characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000;160:2835–2843.
- Tantawy AAG, et al. Results from a 12-month open-label phase 1/2 study of velaglucerase alfa in children and adolescents with type 3 Gaucher disease. J Inborn Errors Metab Screen 2018;6:1–5.
- Zhang W-M, et al. Natl Med J China 2009;89:3397–3400.
The information on this website is intended only to provide knowledge of Gaucher disease health topics. This information should not be used in place of advice from your GP or other healthcare professional. If in doubt please contact your doctor for advice.
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