What are the signs and symptoms?
The main signs and symptoms of type 1 Gaucher disease are an enlarged liver and spleen, low platelet and haemoglobin counts, and problems with bones and joints.
Symptoms vary between people who have type 1 Gaucher disease. Some do not have any symptoms, but usually there is liver and spleen enlargement, and reduced haemoglobin and platelet count. In addition to these signs and symptoms, children often have delayed growth and development.5
People with type 2 and type 3 Gaucher disease may have similar signs and symptoms to people with type 1 Gaucher disease, although there is no bone disease in type 2. A major difference between the types is in the central nervous system (CNS).5,6
- Type 1 Gaucher disease does not directly affect the CNS, but damage to bones in the spine can lead to CNS problems
- Type 2 Gaucher disease has severe effects on the CNS. The disease progresses quickly, and it is usually fatal in infancy (age 2–4 years)
- Type 3 Gaucher disease also affects the CNS, and progresses slowly
- Burrow TA, et al. Prevalence and management of Gaucher disease. Pediatr Health Med Ther 2011;2:59–73.
- Kerem M. Pulmonary function abnormalities in type 1 Gaucher disease. Eur Respir J 1996;9:340–345.
- Haute Autorité de Santé (HAS). Guide for doctors: Long-term conditions. Gaucher disease: National Diagnosis and Treatment Protocol. Paris, France: HAS; 2007.
- Khan A, et al. 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;27:1839–1848.
- Nagral A. Gaucher disease. J Clin Exp Hepatol 2014;4:37–50.
- Pastores GM, Hughes DA. Gaucher Disease. In: Adam MP, et al., editors. GeneReviews® [Internet]. Seattle, Washington: University of Washington, Seattle; 1993–2018. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1269/; Accessed: August 2019.
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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