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

 
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Steps towards a brighter future for patients with Gaucher disease

 

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Getting the diagnosis right in children & adolescents
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Gaucher disease & multiple myeloma
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Gaucher disease & Parkinson's disease
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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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Events

WORLDSymposium™ 2021 congress reports


The WORLDSymposiumTM was held as a virtual meeting this year (7–12 February 2021) and brought together key opinion leaders from the field of lysosomal disorders and rare diseases.

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Events

The 14th European Working Group on Gaucher Disease (EWGGD) congress reports


The EWGGD was held as a virtual meeting for 2020 (12–13 October 2020) and covered key topics in the field of Gaucher disease.

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DIFFERENTIAL DIAGNOSIS

Signs and symptoms of Gaucher disease

What are the signs and symptoms of Gaucher disease?

The overlap between the types of Gaucher disease can make diagnoses challenging. However, recognising the clinical phenotypes of each Gaucher disease type is essential due to the vast differences in clinical outcomes and prognoses.

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DIFFERENTIAL DIAGNOSIS

Getting the diagnosis right

Why is it important to diagnose Gaucher disease early?

An early diagnosis of Gaucher disease is critical in initiating the appropriate patient assessment and management plans as soon as possible.

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DIFFERENTIAL DIAGNOSIS

Diagnostic algorithms for Gaucher disease

Have diagnostic algorithms been developed for Gaucher disease?

To aid clinicians in reaching a diagnosis of Gaucher disease, diagnostic algorithms and guidance for diagnoses have been published.

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