Gaucher disease is a rare, inherited metabolic disorder and is classified as a type of lysosomal storage disease known as sphingolipidosis.1 The worldwide prevalence of Gaucher disease varies by geography, but generally ranges from 0.70 to 1.75 per 100,000 individuals and is substantially higher among the Ashkenazi Jewish population.2-4

Gaucher disease is an autosomal recessive disorder caused by mutations in the gene that encodes glucocerebrosidase, GBA1 (see genetic inheritance of Gaucher disease).5,6 Mutations in the GBA1 gene cause a marked reduction in lysosomal enzyme glucocerebrosidase activity, leading to the development of a multisystemic chronic disease with visceral, haematological and skeletal manifestations, which can be associated with comorbidities.1,7-18

Various forms of the disease have been identified, based on the age at onset; clinical signs; and rate of progression or absence of neurological symptoms19:

Misdiagnosis of Gaucher disease may occur due to a lack of disease awareness of the early signs and symptoms among clinicians. Diagnosing Gaucher disease may also be challenging due to the wide variability in patients’ age, disease severity and type of clinical manifestations.20 The impact of Gaucher disease can affect patients’ quality of life, both physically and emotionally.21Early diagnosis of Gaucher disease is essential in instigating the appropriate patient assessment and management plans as soon as possible.22 Moreover, recognition of  Gaucher disease is essential in enabling patients to avoid inappropriate or unnecessary procedures, and reduces the likelihood of irreversible organ damage, serious complications, and chronic pain and disabling symptoms.23

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

 
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Introducing

Steps towards a brighter future for patients with Gaucher disease

 

An interactive video experience

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Interactive case study

Getting the diagnosis right in children & adolescents
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Interactive case study

Gaucher disease & multiple myeloma
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Interactive case study

Gaucher disease & Parkinson's disease
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Interactive case study

Getting the diagnosis right in adults
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Events

WORLDSymposium™ 2022 congress reports

 

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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Brochure

Diagnosing Gaucher disease


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

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Brochure

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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