GAUCHER DISEASE

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.

GAUCHER DISEASE FACTS

• Gaucher disease is an inherited disorder of metabolism that interferes with many body functions.
• There are different forms of Gaucher disease.
• The most common form of the condition is Gaucher disease type 1.
• The perinatal lethal form is the most severe type 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.

What is the treatment for Gaucher disease?
-Medication
Treatment for Gaucher disease depends upon the type of Gaucher disease and the symptoms and signs of the disease.
Symptoms in individuals with type 1 Gaucher disease may be treated with enzyme replacement therapy.

-Some individuals with Gaucher disease may need surgery if ERT is not effective.

MAJOR SIGNS AND SYMPTOMS OF GAUCHER DISEASE

• Anemia (low red blood cell count)
• Reduced bone mineral density
• Easy bruising
• Easy bleeding that is difficult to stop
• by fever), and the chance of easily broken bones