Gaucher disease is a rare disease that causes accumulation of glucosylceramide (GL-1) resulting in progressive, multiorgan dysfunction.1,2
Clinical manifestations of Gaucher disease include anemia, thrombocytopenia, hepatosplenomegaly, and skeletal disease.1,2
Symptoms should not be ignored, as this progressive condition may lead to future medical complications. Early onset of Gaucher disease correlates with more severe disease and high risk of complications.2,3
Remember: Gaucher disease is marked by extreme diversity in genotype, phenotype, age of onset, and disease severity, as well as an unpredictable, progressive disease course. Signs, symptoms, and clinical course may differ even among individuals with the same genotype and within the same family.4-6
Gaucher disease type 1 also may display inactive periods interrupted by episodes of acute crises or evidence of disease advancement.2,7
Patients may appear to be asymptomatic, yet harbor mild disease manifestations such as cytopenia, splenomegaly, or osteopenia.8
There are 3 types of Gaucher Disease, each with different manifestations9:
More than 90% of Gaucher disease patients are type 1.2
1. Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry. Demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160(18):2835-2843.
2. Mistry PK, Weinthal JA, Weinreb NJ. Clinical roundtable monograph. Disease state awareness in Gaucher disease: a q&a expert roundtable discussion. Clin Adv Hematol Oncol. 2012;10(6 suppl 8):3-16.
3. Kaplan P, Baris H, De Meirleir L, et al. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr. 2013;172(4):447-458
4. Koprivica V, Stone DL, Park JK, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet. 2000;66(6):1777-1786.
5. Lachmann RH, Grant IR, Halsall D, et al. Twin pairs showing discordance of phenotype in adult Gaucher’s disease. Q J Med. 2004;97(4):199-204.
6. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(suppl 5):4-14.
7. Mistry PK, Sadan S, Yang R, et al. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists–oncologists and an opportunity for early diagnosis and intervention. Am J Hematol. 2007;82(8):697-701.
8. Mistry PK, Capellini MD, Lukina E, et al. Consensus Conference: A reappraisal of Gaucher disease - diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110-115.
9. Grabowski GA, Petsko GA, Phil D, Kolodny EH. Chapter 146: Gaucher disease. In: Valle D, Beaudet AL, Vogelstein B, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill. https://ommbid.mhmedical.com/content.aspx?bookis=971§ionid=62643884. Accessed June 21, 2018.
10. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):ii, E441