Gaucher disease – lifelong therapy helps those affected

Gaucher disease – lifelong therapy helps those affected

Gaucher’s disease (pronounced goschee) is one of the so-called storage diseases. Due to the defect in a particular enzyme, lipids cannot be broken down. The body stores them in organs and bones. With fatal consequences for those affected. What are the disease’s causes and consequences, and how is the therapy carried out? You can find out here.

What is Gaucher disease?

Gaucher’s disease is a rare, hereditary fat storage disease (also lipid storage disease), the cause of which is a defect in the enzyme beta-glucocerebrosidase. This enzyme is responsible for splitting glucocerebroside into glucose and ceramide.

If the enzyme is absent or less active than usual, the fatty substances (glucocerebrosides) accumulate, particularly in the so-called macrophages, the body’s scavenger cells. Enlarged macrophages containing undigested glucocerebroside are called Gaucher cells. They are primarily found in the spleen, liver and bone marrow.

 

Gaucher cells and their consequences

The affected organs are enlarged due to metabolic disease, and their function is disturbed. In the bones, the Gaucher cells crowd out the bone marrow. This gradually makes them unstable, and fractures can occur.

However, Gaucher cells can also be stored in other tissues, including:

  • the lymphatic system
  • the lungs
  • of the skin
  • the eyes
  • the kidney and
  • in the nervous system (infrequent)

Gaucher disease affects about one in 20,000 people and is therefore considered rare.

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