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, 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 stored inside the bodies cells.
Enlargement of the spleen and liver are the most common symptoms of Gaucher disease. Damage to the spleen and liver can cause a number of haematological 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.
Traditionally, Gaucher disease has been classified into 3 types. Patients with type 2 or type 3 Gaucher disease develop neurological symptoms – quick eye movements, spasticity and supranuclear gaze palsy (a brain disorder that causes problems with balance, eye movements and changes in mood and behavior).
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.