In the Nordic countries, there are quite few people with this rare disease, and for that reasons there are not much public information about the disease. Because there are relativ few patients in Scandinavia we have established The Nordic Gaucher Association which is an alliance between patient organizations in Denmark, Finland, Sweden and Norway. The fist Nordic meetings with patients and families from all four countries were in Gothenburg April 2005.To enhance public awareness of Gaucher disease we hope that the website will open new windows throughout Scandinavia about Gaucher.
Gaucher Disease is a rare genetic disease in which the body lacks a chemical or enzyme called glucocerebrosidase. This enzyme normally breaks down a fatty waste product called glucocerebroside. Without the enzyme, glucocerebroside accumulates in the body, mostly in the liver and spleen, and to a lesser extent in the bones, lungs and other organs. Gaucher disease is
diagnosed by measuring the amount of enzyme (enzyme activity) in the
blood cells or in special skin cells called fibroblasts. Glucocerebrosidase essentially a protein. Like any other protein that is formed in our body, its production is under genetic control. A single gene is responsible for the formation of glucocerebrosidase . Sometimes changes take place in the gene. There are different kinds of changes, known as mutations that can take place. Each mutation results in a change in the enzyme to take place. Such changes may be quantitative (a change in the amount of enzyme) or qualitative (a change in the nature of the enzyme). Over 200 mutations have been described in Gaucher Disease. In general, mutations that cause the most profound changes in the DNA tend to be found in the people with the most severe problems. | Gaucher Disease was first described in 1882 by Phillipe Gaucher. Gaucher described a 32-year old woman whose spleen was very enlarged. A post mortem exam revealed that cells in the spleen were themselves enlarged. Gaucher described these clinical and pathological findings in his doctoral thesis. The enlarged cells (Gaucher cells) and spleen became signs of the disease, and Gaucher's description of the them enabled other physicians to diagnose people with Gaucher disease, and introduce the term into medical literature. |