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
![](/.imaging/webp/sanofi-platform/img-w400/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-pathophysiology-3x.png/jcr:content/fabry-pathophysiology@3x.png 400w, /.imaging/webp/sanofi-platform/img-w500/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-pathophysiology-3x.png/jcr:content/fabry-pathophysiology@3x.png 500w, /.imaging/webp/sanofi-platform/img-w600/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-pathophysiology-3x.png/jcr:content/fabry-pathophysiology@3x.png 600w, /.imaging/webp/sanofi-platform/img-w700/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-pathophysiology-3x.png/jcr:content/fabry-pathophysiology@3x.png 700w, /.imaging/webp/sanofi-platform/img-w800/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-pathophysiology-3x.png/jcr:content/fabry-pathophysiology@3x.png 800w, /.imaging/webp/sanofi-platform/img-w900/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-pathophysiology-3x.png/jcr:content/fabry-pathophysiology@3x.png 900w, /.imaging/webp/sanofi-platform/img-w1200/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-pathophysiology-3x.png/jcr:content/fabry-pathophysiology@3x.png 1200w)
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
![](/.imaging/webp/sanofi-platform/img-w400/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-symptoms-3x.png/jcr:content/fabry-symptoms@3x.png 400w, /.imaging/webp/sanofi-platform/img-w500/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-symptoms-3x.png/jcr:content/fabry-symptoms@3x.png 500w, /.imaging/webp/sanofi-platform/img-w600/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-symptoms-3x.png/jcr:content/fabry-symptoms@3x.png 600w, /.imaging/webp/sanofi-platform/img-w700/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-symptoms-3x.png/jcr:content/fabry-symptoms@3x.png 700w, /.imaging/webp/sanofi-platform/img-w800/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-symptoms-3x.png/jcr:content/fabry-symptoms@3x.png 800w, /.imaging/webp/sanofi-platform/img-w900/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-symptoms-3x.png/jcr:content/fabry-symptoms@3x.png 900w, /.imaging/webp/sanofi-platform/img-w1200/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-symptoms-3x.png/jcr:content/fabry-symptoms@3x.png 1200w)
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
![](/.imaging/webp/sanofi-platform/img-w400/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-symptoms-3x.png1/jcr:content/fabry-symptoms@3x.png 400w, /.imaging/webp/sanofi-platform/img-w500/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-symptoms-3x.png1/jcr:content/fabry-symptoms@3x.png 500w, /.imaging/webp/sanofi-platform/img-w600/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-symptoms-3x.png1/jcr:content/fabry-symptoms@3x.png 600w, /.imaging/webp/sanofi-platform/img-w700/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-symptoms-3x.png1/jcr:content/fabry-symptoms@3x.png 700w, /.imaging/webp/sanofi-platform/img-w800/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-symptoms-3x.png1/jcr:content/fabry-symptoms@3x.png 800w, /.imaging/webp/sanofi-platform/img-w900/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-symptoms-3x.png1/jcr:content/fabry-symptoms@3x.png 900w, /.imaging/webp/sanofi-platform/img-w1200/dam/rare-diseases-com/rare-diseases/gaucher-disease/signs-and-symptoms/fabry-symptoms-3x.png1/jcr:content/fabry-symptoms@3x.png 1200w)
![](/dam/jcr:40d134d7-bc71-49ed-a0c0-8c6dda7c9723/ui-thumbnail-gaucher-cells@3x.png 252w)
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§ionid=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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