What are the Signs & Symptoms?

The main signs and symptoms of Gaucher disease are an enlarged liver and spleen, low platelet and haemoglobin counts, and problems with bones and joints.

Gaucher Disease Symptoms Infographic

How is Gaucher disease diagnosed?

1. Burrow TA, Barnes S, Grabowski GA. Prevalence and management of Gaucher disease. Pediatric Health, Medicine and Therapeutics 2011;2:59-73.
2. Kerem M. Pulmonary function abnormalities in type 1 Gaucher disease. Eur Resp J 1996;9:340-345.
3. HAS Sante Guide for Doctors: Long-Term Conditions. Gaucher Disease. National Diagnosis and Treatment Protocol. Hatue Autorite de Sante. 2007;1-45.
4. Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK. Risk factors for Fractures and Avascular Osteonecrosis in Type 1 Gaucher Disease: A Study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. J Bone Miner Res 2012;27:1839-48.
This leaflet hopes to answer questions about the inheritance of Gaucher disease.
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Watch a brief video about the causes of Gaucher disease.
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In this video Gaucher disease patients discuss how they were diagnosed.
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What are Lysosomal Storage Disorders?
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Visit the Spotlight on Gaucher YouTube channel to view Gaucher disease informational videos and stories from patients and families.
How is Gaucher disease diagnosed?
Symptoms Infographic
Symptoms Infographic
Download the Gaucher disease brochure for helpful information.

The information on this website is intended only to provide knowledge of Gaucher disease health topics. This information should not be used in place of advice from your GP or other healthcare professional. If in doubt please contact your doctor for advice.

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Download the Gaucher disease toolkit for helpful information and questions to discuss with your doctor.
Symptoms Infographic