Adapted from Sidransky E, 2004. Mol Genet Metab. 83(1–2):6–15.3
For downloadable information about the spectrum of Gaucher disease, please click here
The table summarises aspects of Gaucher disease according to the three different types.1,5
|Prevalence||1:50,000 – 1:100,000 (pan-ethnic)
1:850 (Ashkenazi Jews)
|< 1:150,000 (pan-ethnic)|
|Age at presentation||Any||Infancy||Childhood|
|Lifespan||Variable||< 2 y||< 40 y|
|Primary CNS disease||None||Severe||Mild to severe|
|Hepatosplenomegaly||Mild to severe||Moderate to severe||Mild to severe|
|Mild to severe||Severe||Mild to severe|
|Osseous symptoms||Mild to severe||None||Mild to moderate|
Rare but not so rare
- Patients presenting with splenomegaly and/or thrombocytopenia
- Patients with family members affected by Gaucher disease
- Patients of Ashkenazi Jewish descent
Although the disease can affect anyone of any ethnicity, there is a high prevalence of Gaucher disease in certain ethnic backgrounds. Notably those of Ashkenazi Jewish descent have a disease prevalence of approximately 1 in 800.1
Approximately 1 in every 15 people of Ashkenazi descent is a carrier of Type 1 Gaucher disease.6
Therefore it is important to test close family of patients from this background.
As an autosomal recessive disorder, a carrier of Gaucher disease has a 50% chance of having a child which carries the Gaucher gene. If both parents are carriers, there is a 25% chance that the child will be affected with Gaucher disease. If your patient has an immediate relative who has been diagnosed with Gaucher disease, it is important to order a blood test straight away.
Gaucher symptoms prevalence data from Charrow J et al. Arch Intern Med. 2000. 160:2835–2843 8
For downloadable information on the signs and symptoms of Gaucher disease, please click here
The patient’s experience
Early diagnosis is key
- Premature death from bleeding complications
- Pulmonary hypertension
- Liver disease
- Growth failure
- Complications arising from advanced bone disease
- Impact on quality of life
- 86% were seen by a haematologist-oncologist in pursuit of a diagnosis in the US
- 80% do not consider Gaucher disease in their differential diagnosis.
Splenomegaly and thrombocytopenia are common symptoms of Gaucher disease.9
A recent Italian study found that in patients presenting with either of these symptoms, as well as at least one other symptom of Gaucher disease, the prevalence rate was found to be 3.6%.6
Simple and effective diagnostic algorithms, such as the Cappellini protocol, make it easier to identify patients with suspected Gaucher disease.1
Diagnostic algorithm for Gaucher disease type 1 in individuals of non-ashkenazi Jewish origin.
Figure adapted from Mistry, P. K., et al. 2011. Am J Hematol 86(1): 110–115.1
* Acid-β-glucosidase enzyme activity assay
** Monoclonal gammopathy of undetermined significance
For downloadable information on the diagnostic algorithms for Gaucher disease, please click the relevant link below:
Managing patients with Gaucher disease
Managing your patients’ diagnosis doesn’t stop once they’ve received their results. Regardless of their test outcomes, knowing the next steps in their treatment journey can prepare them for the next stages.
Handling a positive result
Being diagnosed with Gaucher disease can be a life-changing experience for a patient and may take some time to process. During the early stages after diagnosis, it is important to keep in contact with the patient and ensure they have as many support resources as they need.
There are 13 specialist centres across the UK and Ireland:
- Glasgow: Scottish Centre for Metabolic Diseases, Inherited Metabolic Disorders Scotland Managed Clinical Network
- Belfast: Royal Victoria Hospital for Sick Children (Genetics Dept)
Belfast: Northern Ireland Centre for Metabolic Diseases, Belfast City Hospital (Adult)
- Dublin: National Centre for Metabolic Diseases, Children’s University Hospital
- Manchester: Willink Unit, Royal Manchester Children’s Hospital (Paediatrics)
Manchester: The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust (Adult)
- Birmingham: Inherited Metabolic Disorders Service, Birmingham Children’s Hospital (Paediatrics)
Birmingham: Department of Inherited Metabolic Disorders, University Hospital Birmingham (Adult)
- Cambridge: Lysosomal Disorders Unit, Addenbrookes Hospital (Adult)
- Cardiff: Welsh Centre for Metabolic Diseases, Inherited Metabolic Diseases Service University Hospital Wales
- London: Lysosomal Storage Disease Unit, Great Ormond Street (Paediatrics)
London: Charles Dent Metabolic Unit, The National Hospital for Neurology and Neurosurgery (Adult)
London: Lysosomal Storage Disorders, The Royal Free Hospital (Adult)
- Mistry PK, et al. Am J Hematol 2011. 86(1):110–115.
- Charrow J, et al. Clin Genet 2007. 71(3):211–215.
- Sidransky E, et al. Mol Genet Metab. 2004. 83(1–2):6–15.
- Sidransky E, et al. Gaucher disease clinical presentation. Updated November
- Niederau C. Gaucher Disease 3rd edition. Bremen: Uni-Med, 2017.
- Motta I, et al. Eur J of Haematol 2015. 96:352–359.
- Nagral A. J Clin Exp Hep 2014. 4(1):37–50.
- Charrow J et al. Arch Intern Med. 2000. 160:2835-2843
- Gaucher registry annual report. Genzyme Corp. 2006.
- Grabowski GA, et al. (2013). 'Gaucher Disease' in Valle DL, et al., OMMBID. McGraw-Hill Medical. DOI: 10.1036/ommbid.419
- Carrington PA, et al. J Clin Pathol. 1992. 45(4):360.
- O’Donnell M. http://www.cancernetwork.com/cancer-management/acute-leukemias. Accessed March 2021.
- Sawyers CL. N Engl J Med. 1999. 340(17):1330–1340.
- Savage DG, et al. Br J Hematol. 1997. 96(1):111–116.
- Hoffman R, et al. Hematology: basic principles and practice, 6th edition. Philadelphia, PA: Saunders, an imprint of Elsevier inc. 2013.
- Hairy cell leukaemia facts (FS16) Leukemia and Lymphoma Society. White Plains. NY. October 2013.
- Al Farsi K. Oman Med J. 2013. 28(1):3–11.
- Scullin DC Jr, et al. Am J Med. 1979. 67(2):347–352.
- Multiple Myeloma. NHS. https://www.nhs.uk/conditions/multiple-myeloma/symptoms/. Accessed March 2021.
- Myelofibrosis facts (FS14). White Plains, NY. October 2013.
- Tefferi A. Am J Hematol. 2013. 88(2):141–150.
- National Cancer Institute website. Adult Non-Hodgkin Lymphoma Treatment. https://www.cancer.gov/types/lymphoma/patient/adult-nhl-treatment-pdq. Accessed March 2021.
- Shankland KR, et al. Lancet. 2012. 380(9844):848–857.
- Lang E, et al. Diagn Cytopathol. 1999. 20:379–381.
- Alterini R, et al. Haematologica. 1996. 81:282–283.
- Symptoms and Signs of Gaucher Disease. National Gaucher Foundation. Available at: https://www.gaucherdisease.org/about-gaucher-disease/symptoms/. Accessed March 2021.
- Non-Hodgkin Lymphoma – Symptoms. Cancer Research UK. https://www.cancerresearchuk.org/about-cancer/non-hodgkin-lymphoma/symptoms. Accessed March 2021.
- Mistry PK, et al. Am J Hematol 2007. 82:697–701.