Gaucher Disease

Gaucher disease is a rare, inherited condition caused by gene mutations. These mutations cause a defective synthesis of an enzyme called glucocerebrosidase (GCase), which leads to a build-up of lipids in Gaucher cells — cells that store glycolipids and are located in the bone marrow and spleen. As a result, it can cause enlargement of the spleen and/or liver, and erosion of bones. In more progressed cases, it may cause muscle dysfunction, breathing difficulties, and/or seizures.

There are three types of Gaucher disease. Type 1 occurs in either childhood or during adulthood, and is the most common form of the condition — affecting about 90% of patients with the condition. Type 2 occurs in infants, and Type 3 in early childhood. Both affect the central nervous system. Some people with Type 2 or Type 3 Gaucher disease may also develop Parkinson’s disease — due to lipids accumulating in the central nervous system leading to neuron damage. Symptoms of the condition include:

Fatigue
Bleeding that is difficult to stop
Bruising easily
Bone pain
Fever
Bones that break easily