ABOUT GAUCHER DISEASE

GAUCHER DISEASE (GD) presents with a range of symptoms and signs.

Recognising the early stages of Gaucher Disease can be challenging owing to a lack of disease awareness, which can lead to significant diagnostic delays and sometimes irreversible but avoidable morbidities.(1)

Take the short questionnaire to learn more about typical symptoms.(1, 2, 3, 4)

GD affects both males and females, and the age of onset ranges from childhood to adulthood.

It is a multi-systemic condition caused by the accumulation of a type of lipid called glucocerebroside in tissues and organs. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews.(5)

TAKE THE  SYMPTOM QUIZ

 

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.
  5. Stirnemann J, In: Int. J. Mol. Sci. 2017, 18(2), 441.