Gaucher disease is a rare inherited metabolic disorder that results in the abnormal accumulation of certain types of lipids (fatty substances) in the spleen, bone marrow, liver, and lungs, and sometimes in the brain. People with Gaucher disease have a problem with the enzyme glucocerebrosidase, which is either not made in the first place, or more commonly is not very efficient. When this enzyme functions normally it breaks down a glycolipid called glucosylceramide, and when this doesn’t happen – as in Gaucher disease – the lipid is not digested and is simply stored in the lysosomes.
Enlargement of the spleen and liver are the most characteristic symptoms of Gaucher disease. Damage to the spleen and liver can cause a number of hematological complications, including decrease in the number of red and white blood cells and platelets. Gaucher disease affects bone quality, leaving patients vulnerable to fractures which can occur after low impacts that would not damage the bone in a person without the disease.
Traditionally, Gaucher disease has been classified into 3 types. Patients with type 2 or type 3 Gaucher disease develop neurological symptoms – quick eye movements, supranuclear gaze palsy, and spasticity.
There are treatment options available for type 1 Gaucher disease. Treatment options are governed by the severity and rate of disease progression, which is highly variable from one individual to another.