What is Gaucher Disease?

Understanding Gaucher Disease

Gaucher disease is a rare disease that causes accumulation of glucosylceramide (GL-1) resulting in progressive, multiorgan dysfunction. 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

Gaucher disease: What you need to know

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 often mimics the signs and symptoms of many hematological malignancies. It 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 12

Consequences of a delayed diagnosis and treatment

A missed or delayed diagnosis of Gaucher disease is common and can have serious consequences. Gaucher disease type 1 is progressive, yet almost 25% of patients do not get timely access to appropriate disease management because of delays in diagnosis.7,8

Regardless of symptoms or severity, it is important to diagnose Gaucher disease type 1 as soon as possible to prevent significant morbidity and premature mortality that may occur due to a diagnostic delay.7

Gaucher disease type 1 is progressive, so a delay in diagnosis AND MANAGEMENT can lead to severe and potentially life-threatening complications7,8,10:
Bone pain, fractures, avascular necrosis, osteopenia, and osteoporosis

Bone pain, fractures, avascular necrosis, osteopenia, and osteoporosis

Growth failure in children

Growth failure in children

Lung disease and pulmonary hypertension

Lung disease and pulmonary hypertension

Hepatic, splenic, or marrow fibrosis

Hepatic, splenic, or marrow fibrosis

Shortened life span

Shortened life span

Unnecessary procedures (i.e. liver biopsy, splenectomy, empirical corticosteroid therapy)

Unnecessary procedures (i.e. liver biopsy, splenectomy, empirical corticosteroid therapy)

Bleeding and bleed complications

Bleeding and bleed complications

Anemia, fatigue, and pallor

Anemia, fatigue, and pallor

Markedly reduced quality of life

Markedly reduced quality of life

Patients may appear to be asymptomatic, yet harbor mild disease manifestations such as cytopenia, splenomegaly, and osteopenia8

In the short term, therapy may improve11
  • Anemia
  • Thrombocytopenia
  • Hepatomegaly
  • Splenomegaly

In the long run, therapy may prevent progressive manifestations11

Gaucher disease type 1 can be effectively managed12

Treatment options include oral therapy.12

Learn More

Is it Gaucher disease?

Perform a simple blood-based (glucocerebrosidase) enzyme assay.

Test to Know

References: 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. Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biol Targets Ther. 2010;4:299-313. 11. Linari S, Castaman G. Clinical manifestations and management of Gaucher disease. Clin Cases Miner Bone Metab. 2015. 12(2):157-164. 12. 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. 13. National Organization for Rare Disorders. Gaucher Disease. Danbury, CT. https://rarediseases.org/rare-diseases/gaucher-disease. Published January 2006. Accessed June 21, 2018. 14. 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 Gen Metab. 2017;122(3):122-129. 15. Pastores GM, Hughes DA. Gaucher disease. GeneReviews®. Seattle WA: NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK1269/?report=printable. Published July 27, 2000. Updated June 21, 2018. Accessed July 2, 2018.