Gaucher disease is the most common lysosomal storage disorder, affecting estimated 1 in 40,000 to 1 in 60,000 people around the world.1 It can be diagnosed at any age from infancy to late adulthood.

WHAT TO LOOK OUT FOR

The signs of Gaucher disease may look similar to haematological malignancies. Rule out Gaucher disease in patients with these symptoms as they present.

3 key symptoms to look out for are:1,2

  • Splenomegaly
  • Thrombocytopaenia
  • Hepatomegaly

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Early diagnosis is key

The early diagnosis and treatment of Gaucher disease are essential to prevent or reverse severe disease complications.1,2 However, when Gaucher is missed, a patient can remain untreated for up to 10 years.2

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A patient can remain untreated for up to 10 years.2

If left untreated, Gaucher disease can lead to:1,2

  • Premature death from bleeding complications
  • Pulmonary hypertension
  • Liver disease
  • Sepsis
  • Growth failure
  • Complications arising from advanced bone disease
  • Impact on quality of life

Haematologists play a pivotal role in diagnosis

In a survey of 136 Gaucher patients in the US, Australia and New Zealand:2

86% were seen by a haematologist-oncologist in pursuit of a diagnosis.

However, a survey of over 400 haematology-oncologists in the US, Australia and New Zealand revealed that:2

80% do not consider Gaucher disease in their differential diagnosis.

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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. Mistry, P. K., et al. Am J Hematol 2011;86(1):110-115
2. Mistry, P. K., et al. Am J Hematol. 2007;82:697–701