Signs and Symptoms

The various signs and symptoms found in patients with Gaucher disease type 1 reflect the primary sites of substrate storage, which are in cells of monocyte/macrophage lineage.

Multi-systemic storage sites for Gaucher cells in Gaucher disease1


Children or adolescents with Gaucher disease type 1 often have marked splenomegaly, easy bruising, slower than normal growth, hypermenorrhagia, and pubertal development

  • Splenomegaly is the most common presenting sign in children1
  • Majority of children have growth delay (below 25% for height) at diagnosis2


Adult patients with Gaucher disease type 1 can present with any of these symptoms. Some may be severe and others completely absent.

  • Most adults have splenomegaly, anemia, and thrombocytopenia3
  • Majority of adults experience bone pain3
  • General symptoms include fatigue, easy bruising, menorrhagia, decreased appetite, and abdominal pain3

For more information about Gaucher disease, please click here to see the Gaucher 101 page.

Grabowski GA, et al. Gaucher Disease. In: Valle D, Antonarakis S, Ballabio A, Beaudet A, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill
 2014. Accessed December 10, 2019. 2. Kaplan P, et al. Arch Pediatr Adolesc Med. 2006;160(6):603–608. 3. Charrow J, et al. Arch Intern Med. 2000;160(18):2835–2843.

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