What is Gaucher disease?

Gaucher disease is a rare genetic disorder that is one of a group called lysosomal storage disorders. It is an inherited disorder that results in the accumulation of a fatty substance called glucocerebroside in the body’s organs and tissues.

It is caused by a missing or deficient enzyme called ‘glucocerebrosidase’.1 In people with Gaucher disease, the gene that would normally tell the body to produce this enzyme is altered (often called a gene mutation).

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

Gaucher disease symptoms vary widely and there are many people who live without
any symptoms.

Types of Gaucher Disease

The percentages for types 1–3 shown in the diagram are based on data from around the world,2 but higher percentages of patients are affected by Gaucher disease types 2 and 3 in parts of the Middle East and in Asian countries (including China and Japan).3 For example, a study in Beijing (China) found that 15% of people with Gaucher disease had type 2 and 27% had type 3.4

References

  1. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008 Oct 4;372(9645):1263-71.
  2. Charrow J. The Gaucher Registry: Demographics and Disease Characteristics of 1698 patients with Gaucher disease. Archives of Internal Medicine 2000;160:2835-2843
  3. Tantawy AAG, et al. Results from a 12-month open-label phase 1/2 study of velaglucerase alfa in children and adolescents with type 3 Gaucher disease. J Inborn Errors Metab Screen 2018;6:1–5.
  4. Zhang W-M, et al. Natl Med J China 2009;89:3397-3400.
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 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?
How is Gaucher disease diagnosed?
Symptoms Infographic
Symptoms Infographic

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