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
- Mehta A, Belmatoug N, Bembi B, et al. Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians. Mol Genet Metab 2017; 122: 122-129.
- Mehta A, Kuter DJ, Salek SS, et al. Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative. Intern Med J 2019; 49: 578-591.
- Mistry PK, Weinthal JA, Weinreb NJ. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion. Clin Adv Hematol Oncol 2012; 10(6 Suppl 8): 1-16.
- Cappellini MD, Cassinerio E, Motta I, et al. Finding and treating Gaucher disease Type 1 – The role of the haematologist. Eur Oncol Haematol 2018; 14: 50-56.
- Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004; 41: 15-22.
- Deegan P, Hughes D, Mehta A, et al. UK National Guideline for adult Gaucher disease. April 2005. Available at https://www.researchgate.net/publication/265282933_UK_National_Guideline_for_Adult_Gaucher_Disease_April_2005. Accessed September 2020.
- The Belgian Working Group on Gaucher disease. Guidelines for diagnosis, treatment and monitoring of Gaucher's disease. May 2016. Available at https://cema.uza.be/static/documenten/informatie_metabole_ziekten/Belgian%20Expert%20Opinion%20for%20Diagnosis,%20Treatment%20an%20Monitoring%20of%20Gaucher.pdf. Accessed September 2020.
- Haute Autorité de Santé. Gaucher disease: national diagnosis and treatment protocol. January 2007. Available at https://www.has-sante.fr/upload/docs/application/pdf/ven_gaucher_web.pdf. Accessed September 2020.
- German Society for Child and Youth Medicine Working Group on Pediatric Metabolic Disorders. Gaucher's disease guidelines. March 2006. Available at https://www.ggd-ev.de/wp-content/uploads/mgaucher-22-12-2007.pdf. Accessed September 2020.
- Ontario guidelines for the treatment of Gaucher disease by enzyme replacement with imiglucerase or velaglucerase, or substrate reduction therapy with miglustat. August 2011. Available at http://garrod.ca/wp-content/uploads/2011/11/ONTARIO-GUIDELINES-FOR-TREATMENT-OF-GAUCHER-August-2011-2.pdf. Accessed September 2020.
- Fundaciόn Española para el Estudio y Tratamiento de la Enfermedad de Gaucher y otras Lisosomales. Medical care guide for patients with Type 1 Gaucher's disease. April 2011. Available at http://www.feeteg.org/docs/GC_Gaucher3.pdf. Accessed September 2020.
- Johnson BA, Dajnoki A, Bodamer O. Diagnosis of lysosomal storage disorders: Gaucher disease. Curr Protoc Hum Genet 2014; 82: 17.15.1-17.15.6.
- Dekker N, van Dussen L, Hollak CE, et al. Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood 2011; 118: e118-e127.
- Zhang W, Oehrle M, Prada CE, et al. A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response. Analyst 2017; 142: 3380-3387.
- Hollak CE, van Weely S, van Oers MH, et al. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 1994; 93: 1288-1292.
- van Dussen L, Hendriks EJ, Groener JE, et al. Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy. J Inherit Metab Dis 2014; 37: 991-1001.
- Ries M, Schaefer E, Luhrs T, et al. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. J Inherit Metab Dis 2006; 29: 647-652.
- Boot RG, Verhoek M, de Fost M, et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood 2004; 103: 33-39.
- Deegan PB, Moran MT, McFarlane I, et al. Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis 2005; 35: 259-267.
- Raskovalova T, Deegan PB, Mistry PK, et al. Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data. Haematologica 2020; Epub ahead of print.
- Aviezer D, Brill-Almon E, Shaaltiel Y, et al. A plant-derived recombinant human glucocerebrosidase enzyme–a preclinical and phase I investigation. PLoS One 2009; 4: e4792.