Epidemiology of Gaucher disease

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 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 800.²

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

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.