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
- Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci 2017; 18: 441.
- Nalysnyk L, Rotella P, Simeone JC, et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology 2017; 22: 65-73.
- Zimran A, Gelbart T, Westwood B, et al. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet 1991; 49: 855-859.
- Zimran A, Elstein D. Gaucher disease and related lysosomal storage diseases. In: Kaushansky K, Lichtman M, Prchal J, et al., eds. Williams Hematology. 9th ed; New York, NY: McGraw-Hill, 2016.
- Ginns EI, Choudary PV, Tsuji S, et al. Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci U S A 1985; 82: 7101-7105.
- Nagral A. Gaucher disease. J Clin Exp Hepatol 2014; 4: 37-50.
- Utz J, Whitley CB, van Giersbergen PL, et al. Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug-drug interactions. Mol Genet Metab 2016; 117: 172-178.
- Shiran A, Brenner B, Laor A, et al. Increased risk of cancer in patients with Gaucher disease. Cancer 1993; 72: 219-224.
- Rosenbloom BE, Weinreb NJ, Zimran A, et al. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood 2005; 105: 4569-4572.
- de Fost M, Vom Dahl S, Weverling GJ, et al. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis 2006; 36: 53-58.
- Taddei TH, Kacena KA, Yang M, et al. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol 2009; 84: 208-214.
- Arends M, van Dussen L, Biegstraaten M, et al. Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature. Br J Haematol 2013; 161: 832-842.
- Bultron G, Kacena K, Pearson D, et al. The risk of Parkinson's disease in type 1 Gaucher disease. J Inherit Metab Dis 2010; 33: 167-173.
- Packman W, Wilson Crosbie T, Riesner A, et al. Psychological complications of patients with Gaucher disease. J Inherit Metab Dis 2006; 29: 99-105.
- Tantawy AAG, Adly AAM, Salah El-Din NY, et al. Psychiatric manifestations in Egyptian Gaucher patients on enzyme replacement therapy. J Psychosom Res 2019; 122: 75-81.
- Kałużna M, Trzeciak I, Ziemnicka K, et al. Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review. Orphanet J Rare Dis 2019; 14: 275.
- Mehta A. Epidemiology and natural history of Gaucher's disease. Eur J Intern Med 2006; 17 Suppl: S2-S5.
- Kim YM, Shin DH, Park SB, et al. Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy. BMC Med Genet 2017; 18: 55.
- Baris HN, Cohen IJ, Mistry PK. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev 2014; 12 Suppl 1: 72-81.
- 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.
- Giraldo P, Solano V, Pérez-Calvo JI, et al. Quality of life related to type 1 Gaucher disease: Spanish experience. Qual Life Res 2005; 14: 453-462.
- 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.