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.

Signs and symptoms of type 1 Gaucher disease

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
HOW IS GAUCHER DISEASE DIAGNOSED?

References

  1. Burrow TA, et al. Prevalence and management of Gaucher disease. Pediatr Health Med Ther 2011;2:59–73.
  2. Kerem M. Pulmonary function abnormalities in type 1 Gaucher disease. Eur Respir J 1996;9:340–345.
  3. Haute Autorité de Santé (HAS). Guide for doctors: Long-term conditions. Gaucher disease: National Diagnosis and Treatment Protocol. Paris, France: HAS; 2007.
  4. 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.
  5. Nagral A. Gaucher disease. J Clin Exp Hepatol 2014;4:37–50.
  6. 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.
Brian (Carer): "When I met Elaine she was fit, full of life … and then when we got to know each other she eventually turned around to me and said, amongst other things ‘Oh, by the way, I’ve got Gaucher disease’. It was like ‘What? Wait, what is Gaucher disease?."
Virginia (Patient): "My first Gaucher symptoms were an enlarged liver and spleen, low platelet levels and a slow growth and development."
Elaine (Patient): "By the age of about 4 or 5, I was showing the classic signs of Gaucher disease: a very pronounced tummy, very pale skin, my limbs were very thin and I would bruise very easily."
Ivana (Patient): "Doctors from my city hospital, they did not know what was happening. They hadn’t even heard of Gaucher disease."
Virginia (Patient): “It took a little bit over a year between my initial symptoms and my Gaucher diagnosis. I was eight years old when the symptoms first started.”
Virginia (Patient): “I find myself very fortunate to have been diagnosed at such an early age, and also being able to get my treatment right away. Because now I feel really healthy and live a full life.”
Virginia (Patient): “I think Gaucher disease as a whole has made my whole family more close together. We have connected in a way that, I don't know if other families do.”
Elaine (Patient): “It’s of great value having a brother to talk to that understands totally what I’m going though.”
Brian (Carer): “As a caregiver and a husband, I do what I think is natural and the right thing to do, which is just support, love, have fun and handle whatever comes along.”
Ivana (Patient): “The support from my family is the most important for me.”
Gustavo (Patient): “When I was diagnosed with Gaucher disease, I felt alone at the beginning. When a person is diagnosed with Gaucher disease I advise that they don’t feel alone because there are a lot of people with Gaucher.”
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Watch a brief video about the cause of Gaucher disease.
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In this video Gaucher disease patients discuss how they were diagnosed.
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How is Gaucher disease diagnosed?
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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.

Focusonfabry.com is intended for an International and US audience and has been produced by Shire. The website has been developed in accordance with industry and legal standards to provide information for the general public about Hunter Syndrome health topics. Shire makes every reasonable effort to include accurate and current information. However, the information provided on the website is not exhaustive.

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