It is a genetic disease characterised by the accumulation of glucocerebrosides in the tissues. These are products that appear when the lipids that protect the surface of cells (sphingolipids) are broken down. There are three types of Gaucher disease, with type I being the most common. If it manifests in infancy (type II), survival usually does not exceed two years, whereas if it appears in childhood or adulthood (type I and type III), those affected usually live for many years.
It manifests with bone pain, spontaneous bone fractures, delayed growth and puberty, as well as enlargement of the liver and spleen. Due to a deficiency in platelets, individuals with the disease are prone to nosebleeds and spontaneous bruising.
Diagnosis is made on the basis of symptoms and is confirmed by DNA and/or leukocyte enzyme analysis.
Treatment is available for types I and III by providing the deficient enzyme, glucocerebrosidase. In cases where it is not possible to administer the enzyme, drugs such as miglustad or eliglustad can be administered to reduce the amount of glucocerebrosides accumulated in the tissues.
The size of the liver, spleen and blood tests should be checked regularly. When the spleen becomes so large that it destroys excessive red blood cells and white blood cells, it may need to be removed (splenectomy).
A definitive cure can only be achieved by bone marrow or stem cell transplantation; it carries so much risk that it is considered a last resort treatment.
If there is a family history of Gaucher disease, prenatal testing is recommended to see if the foetus is at risk for the disease.
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