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What to look out for

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

Four key symptoms to look out for are:1

  • Splenomegaly

  • Thrombocytopenia

  • Hepatomegaly

  • Bone pain

What to look out for

The journey to diagnosis can be a challenge. However, there are some key symptoms and signs to look out for:2,3

Gaucher symptoms prevalence data from Charrow J et al. Arch Intern Med. 2000. 160:2835–2843.3

When considering patients with these symptoms, where malignancy has been ruled out, think Gaucher disease.3–20

  1. Motta I, et al. Eur J of Haematol 2015. 96:352–359.
  2. Nagral A. J Clin Exp Hep 2014. 4(1):37–50
  3. Charrow J et al. Arch Intern Med. 2000. 160:2835-2843
  4. Mistry PK, et al. Am J Hematol. 2011. 86(1):110–115.
  5. Gaucher registry annual report. Genzyme Corp. 2006.
  6. Grabowski GA, et al. (2013). 'Gaucher Disease' in Valle DL, et al., OMMBID. McGraw-Hill Medical. DOI: 10.1036/ommbid.419
  7. Carrington PA, et al. J Clin Pathol. 1992. 45(4):360.
  8. Sawyers CL. N Engl J Med. 1999. 340(17):1330–1340.
  9. Savage DG, et al. Br J Hematol. 1997. 96(1):111–116.
  10. Hoffman R, et al. Hematology: basic principles and practice, 6th edition. Philadelphia, PA: Saunders, an imprint of Elsevier inc. 2013.
  11. Hairy cell leukaemia facts (FS16) Leukemia and Lymphoma Society. White Plains. NY. October 2013
  12. Al Farsi K. Oman Med J. 2013. 28(1):3–11.
  13. Scullin DC Jr, et al. Am J Med. 1979. 67(2):347–352.
  14. Multiple Myeloma. NHS. Accessed March 2021.
  15. Myelofibrosis facts (FS14). White Plains, NY. October 2013
  16. Tefferi A. Am J Hematol. 2013. 88(2):141–150.
  17. National Cancer Institute website. Adult Non-Hodgkin Lymphoma Treatment. Accessed March 2021.
  18. Shankland KR, et al. Lancet. 2012. 380(9844):848–857.
  19. Lang E, et al. Diagn Cytopathol. 1999. 20:379–381
  20. Alterini R, et al. Haematologica. 1996. 81:282–283.
  21. Symptoms and signs of Gaucher disease. National Gaucher Foundation. Available at: Accessed March 2021.
  22. O'Donnell M. Accessed March 2021.
  23. Non-Hodgkin Lymphoma - Symptoms. Cancer Research UK. Accessed March 2021.

MAT-XU-2302932 (v1.0) Date of preparation: October 2023