The various signs and symptoms found in patients with Gaucher disease reflect the primary sites of substrate storage, which are in cells of monocyte/macrophage lineage.
Multisystemic storage sites for Gaucher cells in Gaucher disease1
Children or adolescents with Gaucher disease 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 diagnosis3,4
Kaplan et al. Arch Pediatr Adolesc Med. 2006;160:603.
Patients with Gaucher disease can present with any of these symptoms. Some may be severe and others completely absent.
- Most adults have splenomegaly, anemia, and thrombocytopenia5
- Majority of patients experience bone pain5
- General symptoms include fatigue, easy bruising, menorrhagia, decreased appetite and abdominal pain5
Charrow et al. Arch Intern Med. 2000;160:2835.
1. Grabowski GA, Petsko GA, Kolodny EH. 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§ionid=225546056. Accessed December 10, 2019. 2. Mistry PK, et al. Am J Hematol 2011;86:110-115. 3. Kaplan P et al. Arch Pediatr Adolesc Med 2006. 4. Andersson et al. Eight-Year Clinical Outcomes of Long-Term Enzyme Replacement Therapy for 884 Children with Gaucher Disease Type 1. Pediatrics 2008;122;1182-1190. 5. Charrow J et al., Arch Intern Med. 2000;160:2835.