A survey of 154 patients with Gaucher disease based in the US, found that for 1 in 7 patients, reaching a diagnosis of Gaucher disease took ≥7 years, with lack of physician awareness or misdiagnosis of the disease resulting in diagnostic delay.1 Early diagnosis of Gaucher disease is essential in initiating the appropriate patient assessment and management plans as soon as possible.2 Moreover, recognition of Gaucher disease is essential in enabling patients to avoid inappropriate or unnecessary medical procedures. An early diagnosis will also reduce the likelihood of irreversible organ damage and serious complications, in addition to chronic pain and disabling symptoms.3 A prompt diagnosis also allows patients to receive treatment, which may alleviate many of the initial disease signs and symptoms and therefore improve quality and duration of life.4

Gaucher disease encompasses a range of signs and symptoms, and haematologists are the most likely among physician specialities to encounter patients with Gaucher disease in their medical practice. Patients may also report their symptoms to rheumatologists, orthopaedists, paediatricians and gastroenterologists; therefore, it is important that, when clinically relevant, physicians consider Gaucher disease in their evaluation as a means to getting the diagnosis right.1

A diagnosis of Gaucher disease can be confirmed or excluded through assays to test for glucocerebrosidase enzyme activity in dried blood spots, leukocytes or skin fibroblasts.5-12 Plasma levels of glucosylsphingosine (lyso-Gb1), chitotriosidase and CC chemokine ligand 18 (CCL18) are useful disease biomarkers for Gaucher disease.13-20 Genetic analysis should be performed in patients with Gaucher disease to identify the mutations or alterations in the GBA1 gene.5-9,11,21

The availability of tests for Gaucher disease varies; more information is provided on the Genetic Testing Registry (https://www.ncbi.nlm.nih.gov/gtr/conditions/C0017205/).

C-ANPROM/INT//7567; Date of preparation: September 2020