Gaucher's (go-SHAYZ) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to become much larger than normal and can affect their function. The fatty substances associated with Gaucher's disease also can build up in bone tissue.
Symptoms of Gaucher disease vary greatly among those who have the disorder. The major clinical symptoms include: Enlargement of the liver and spleen (hepatosplenomegaly), A low number of red blood cells (anemia), Easy bruising caused, in part, by a low level of platelets (thrombocytopenia) and Bone disease (bone pain and fractures).
The diagnosis of Gaucher disease is based on clinical symptoms and laboratory testing. A diagnosis of Gaucher disease is suspected in individuals who have bone problems, enlarged liver and spleen (hepatosplenomegaly), changes in red blood cell levels, easy bleeding and bruising from low platlets or signs of nervous system problems.
Gaucher's Disease causes the significant morbidity and mortality throughout the world. The incidence and the prevalence of this disease vary among the different population throughout the world. A study revealed that, Mexico, Gaucher's Disease affects 1-2% of the entire community. Age group between 0-3 years are mostly been affected by this disease.