Rare but not so rare

Although considered a rare disease in the general population, the prevalence of Gaucher disease is significantly higher in specific patient groups.1

Think Gaucher disease when considering the following:

  • Patients presenting with splenomegaly and/or thrombocytopenia
  • Patients with family members affected by Gaucher disease
  • Patients of Ashkenazi Jewish decent
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Splenomegaly and/or thrombocytopenia

Splenomegaly and thrombocytopenia are the most common symptoms of Gaucher disease.2

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%.1

Simple and effective diagnostic algorithms, such as the Capellini protocol make it easier to identify patients with suspected Gaucher disease.3

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): 110-115.3

Inheriting Gaucher disease

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.

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High-risk populations

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 decent have a disease prevalence of approximately 1 in 800.4

Approximately 1 in every 15 people of Ashkenazi decent is a carrier of Type 1 Gaucher disease.1

It is important to test close family of patients from this background.

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Adverse events should be reported. Reporting forms and information can be found at yellowcard.mhra.gov.uk

Adverse events should also be reported to Sanofi Tel: 0800 090 2314. Alternatively, send via email to UK-drugsafety@sanofi.com

Adverse events should be reported. Reporting forms and information can be found at www.hpra.ie; email: medsafety@hpra.ie

Adverse events should also be reported to Sanofi Ireland Ltd. Tel: +353 (1) 403 5600. Alternatively, send via email to IEPharmacovigilance@sanofi.com

References:

1. Motta I et al, Eur J of Haematol, 2015;96:352-359
2. Charrow J, et al. Arch Intern Med. 2000;160:2835
3. Mistry, PK, et al. Am J Hematol 86(1) 2011: 110-115
4. Mistry P. Clinical Advances in Hematology and Oncology 2012;10:7–9

* Acid Beta-glucosidase enzyme activity assay
** Monoclonal gammopathy of undetermined signficance