Gaucher disease

Gaucher disease (pronounced: gō-shāz) is a rare, inherited disorder that impacts many of the body's organs and tissues. It is caused by a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of certain fats, known as glucocerebrosides, in the body's cells.

Etymology

The disease is named after the French doctor Philippe Gaucher, who first described the condition in 1882.

Types of Gaucher disease

There are three main types of Gaucher disease:

• Type 1 (non-neuronopathic Gaucher disease): This is the most common form of the disease. Symptoms include an enlarged liver and spleen, bone pain and fractures, and fatigue due to low blood counts.

• Type 2 (acute neuronopathic Gaucher disease): This form of the disease typically causes severe neurological symptoms, such as brain damage, which usually appear in infancy and lead to rapid, often fatal, deterioration.

• Type 3 (chronic neuronopathic Gaucher disease): This form of the disease also causes neurological symptoms, but they appear later in childhood and progress more slowly than in Type 2.

Symptoms

Symptoms of Gaucher disease can vary widely, from mild to severe. They may include fatigue, bruising easily, anemia, an enlarged liver or spleen, bone pain and fractures, and in severe cases, brain damage.

Diagnosis

Gaucher disease is diagnosed through a blood test that measures the level of the enzyme glucocerebrosidase. Genetic testing can also be used to identify mutations in the GBA gene, which causes Gaucher disease.

Treatment

While there is no cure for Gaucher disease, treatments can help manage symptoms and improve quality of life. These may include enzyme replacement therapy, which replaces the missing or deficient enzyme, and substrate reduction therapy, which reduces the production of the fatty substances that accumulate in the cells.

See also

• Lysosomal storage disorder
• Sphingolipidoses
• Rare disease

External links

• Medical encyclopedia article on Gaucher disease
• Wikipedia's article - Gaucher disease

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