Gaucher's disease

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Gaucher's disease (pronounced: go-SHAYZ) 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.

Symptoms

Symptoms of Gaucher's disease can vary widely, from mild to severe. They may include anemia, fatigue, hepatosplenomegaly, bone pain, and bruising and bleeding disorders.

Types

There are three main types of Gaucher's disease:

  • Type 1 (non-neuronopathic form): This is the most common form of the disease. Symptoms can appear at any age.
  • Type 2 (acute neuronopathic form): This is a more severe form of the disease, with symptoms appearing in infancy.
  • Type 3 (chronic neuronopathic form): This form of the disease is characterized by neurological symptoms that progress more slowly than in Type 2.

Diagnosis

Diagnosis of Gaucher's disease involves a blood test to measure the level of glucocerebrosidase enzyme activity. Genetic testing can also be used to identify mutations in the GBA gene, which causes Gaucher's disease.

Treatment

Treatment for Gaucher's disease may include enzyme replacement therapy (ERT), substrate reduction therapy (SRT), and supportive care to manage symptoms.

Prognosis

The prognosis for individuals with Gaucher's disease varies depending on the type and severity of symptoms. With treatment, most individuals with Type 1 Gaucher's disease can live healthy lives. However, individuals with Type 2 and Type 3 Gaucher's disease often have a shortened lifespan due to neurological complications.

See also

External links

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