Gaucher Disease

What is Gaucher disease?

Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. In people with this condition, the body is unable to break down a certain type of fat (lipid) called glucocerebroside.

Genetic changes are related to the following types of Gaucher disease.

• Gaucher disease, type 1
• Gaucher disease, type 2
• Gaucher disease, type 3
• Gaucher-like disease

The signs and symptoms of Gaucher disease vary widely among affected individuals. The major features of this disorder include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anaemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), and bone disease. Gaucher disease can also affect the heart and lungs.

The subtypes of Gaucher disease are grouped by their signs and symptoms. Type 1 is called non-neuroneopathic Gaucher disease because the nervous system is usually not affected. The features of this disorder range from mild to severe and may appear early in life or in adulthood.

Types 2 and 3 Gaucher disease are known as neuroneopathic forms of the disorder because they are characterised by problems that affect the nervous system. In addition to the signs and symptoms described above, these conditions can cause seizures and brain damage. Type 2 Gaucher disease usually causes severe medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but tends to progress more slowly than type 2.

Gaucher-like disease chiefly affects the heart, but may also cause bone disease and mild enlargement of the spleen.

How common is Gaucher disease?

This disease is seen in 1 in 50,000 to 100,000 people in the general population. Type 1 Gaucher disease is the most common form of the disorder, and occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. The disorder affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. Types 2 and 3 Gaucher disease and Gaucher-like disease are uncommon, and do not occur more frequently in people of Ashkenazi Jewish descent.

What genes are related to Gaucher disease?

Mutations in the GBA gene cause Gaucher disease.

Mutations in the GBA gene lead to extremely low levels of an enzyme called beta-glucocerebrosidase. This enzyme usually breaks down a lipid called glucocerebroside into a sugar (glucose) and a simpler fat molecule. Without functional beta-glucocerebrosidase, glucocerebroside can build up in the body's cells. The abnormal accumulation of this substance damages tissues and organs, causing the characteristic features of Gaucher disease.

How do people inherit Gaucher disease?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

What other names do people use for Gaucher disease?

• Cerebroside Lipidosis Syndrome
• Gauchers Disease
• Gaucher splenomegaly
• Gaucher syndrome
• GD
• Glucocerebrosidase deficiency
• Glucocerebrosidosis
• Glucosylceramidase deficiency
• Glucosylceramide beta-glucosidase deficiency
• Glucosylceramide lipidosis
• Glucosyl cerebroside lipidosis
• Kerasin histiocytosis
• Kerasin lipoidosis
• Kerasin thesaurismosis
• Lipoid histiocytosis (kerasin type)