An autosomal recessive genetic disorder characterized by the accumulation of glucocerebrosides in the tissues. These are products of the breakdown of lipids that protect the surface of cells (sphingolipids). There are three types of Gaucher disease, with type 1 being the most common. If it occurs in infancy (type 2), survival does not usually exceed two years, whereas if it occurs in childhood or adulthood (types 1 and 3), people usually live for many years.
Symptoms include bone pain, spontaneous fractures, delayed growth and puberty, and enlargement of the liver and spleen. Due to a lack of platelets, people with the disease are prone to nosebleeds and spontaneous bruising.
Diagnosis is made by the presence of symptoms and confirmed by DNA and/or acid beta-glucosidase analysis of leukocytes.
Treatment for types 1 and 3 is based on administration of the deficient enzyme, glucocerebrosidase. If it is not possible to administer the enzyme, drugs such as miglustad or eliglustad can be used to reduce the amount of glucocerebrosides accumulated in the tissues.
It is advisable to check the size of the liver, spleen, and analytical controls periodically. If the spleen becomes so large that it destroys too many red and white blood cells, it may need to be removed (splenectomy).
A definitive cure can only be achieved with a bone marrow or stem cell transplant; because of the high risk involved, this is considered a treatment of last resort.
If there is a family history of Gaucher disease, prenatal testing is recommended to determine if the fetus is at risk for the disease.
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