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

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Children

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

Adults

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.

References:
1. 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.
http://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225546056. 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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