Keep families in touch for support. Compile a register of those affected by Gaucher disease, which will help assess the prevalance and distribution of affected families. Actively encourage medical research. Gauchers Association is registered as a charity in the United Kingdom. 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. In the rarer Type 2 and Type 3 Gaucher disease, neurological problems will occur. The information included on these pages is intended to be useful to patients and physicians but it is no substitute for skilled medical advice. Site founded March 1996.