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.21 Early 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