Gaucher disease is an inherited, enzyme deficiency, disorder. Symptoms range from mild to severe and can appear at any time, from infancy to old age.
These Gaucher symptons may include anaemia, fatigue, easy bruising and a tendency to bleed. An enlarged spleen and liver may also occur in Gaucher disease as well as bone pain, degeneration and fractures.
The most common form of Gaucher disease (Type 1) affects 1 in 100,000 of the general population although it is estimated that not all those who have Gaucher disease will show symptoms. In the rarer Type 2 and Type 3 Gaucher disease, neurological problems will occur.
ARCHIVE SITE FOR GAUCHER DISEASE
Most of the information on this site is still useful but it is no longer the official site of the Gauchers Association which can be found at www.gaucher.org.uk.
This site contains over 200 pages of information about Gaucher disease and its treatment.
Gaucher Disease English language version
La enfermedad de Gaucher en español
Some articles are also available in German and Italian. References to them are made in the English Contents page.
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