The quiz below asks questions about typical symptoms and signs of Gaucher disease. (1, 2, 3, 4)

Have you been diagnosed with UNEXPLAINED anaemia?
Have you been diagnosed with UNEXPLAINED thrombocytopenia or low blood platelets?
Do you have an enlarged spleen OF UNKNOWN ORIGIN, also known as UNEXPLAINED splenomegaly?
Have you ever suffered from bone pain, bone crisis or bone necrosis?
Do you have an enlarged liver OF UNKNOWN ORIGIN, also known as UNEXPLAINED hepatomegaly?
Have you ever been diagnosed with hyperferritinemia or elevated ferritin levels?
Does one of your family members suffer from gaucher disease?
 

REFERENCES

  1. Mehta A. et al. In: Internal Medicine Journal 49 (2019) 578–591.
  2. Mehta, A. (2006). Epidemiology and natural history of Gaucher's disease. European Journal Of Internal Medicine, 17, S2-S5.
  3. Stein, P., Yu, H., Jain, D., & Mistry, P. (2010). Hyperferritinemia and iron overload in type 1 Gaucher disease. American Journal Of Hematology, 85(7), 472-476.
  4. Kaplan, P., Baris, H., De Meirleir, L., Di Rocco, M., El-Beshlawy, A., & Huemer, M. et al. (2012). Revised recommendations for the management of Gaucher disease in children. European Journal Of Pediatrics, 172(4), 447-458.
 

Please note: This questionnaire will guide you through some of the typical symptoms and signs that may be associated with Gaucher Disease. This is not a diagnostic tool and will not give you either a prediction or answer as to whether you have Gaucher Disease. Diagnosis of Gaucher Disease requires a review of your medical history by a doctor, and may require a specific test to be conducted. If you are concerned about your symptoms and signs, please speak to your doctor.