What is Gaucher Disease? 

Gaucher  disease is an  inherited disorder that affects many  of the body's organs  and tissues.  The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. 

Type 1 Gaucher disease is  the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the  liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and  bone abnormalities such as bone pain, fractures,  and arthritis. 

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

The most severe type of Gaucher disease is called the perinatal lethal form. This condition  causes severe or life-threatening complications starting before birth or  in infancy. Features of the perinatal lethal form can include extensive swelling caused  by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth. 

Another form of Gaucher disease is known as the cardiovascular  type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease  may also have eye abnormalities, bone disease,  and mild enlargement  of the spleen (splenomegaly). 

What how common is Gaucher disease? 

Gaucher  disease occurs in  1 in 50,000 to 100,000 people in the general population. Type 1 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. This condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher 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. The GBA gene provides instructions for making an  enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease. 

How do people inherit Gaucher disease? 

This condition  is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. 

Where can I find information about  treatment for Gaucher disease? 

These resources address  the management  of Gaucher disease and may include treatment providers. 

• Gene Review 
• Genetic Alliance 

• Cerebroside Lipidosis Syndrome 
• Gauchers Disease 
• Gaucher's 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)