Gaucher’s disease (pronounced goschee) is one of the so-called storage diseases. Due to the defect of a special enzyme, fatty substances cannot be broken down. Instead, the body stores them in organs and bones. This has fatal consequences for those affected. What are the causes and consequences of the disease and how is it treated? Find out here.
What is Gaucher’s disease?
Gaucher disease is a rare, hereditary fat storage disease (also known as lipid storage disease) caused by a defect in the enzyme beta-glucocerebrosidase. This enzyme is responsible for the cleavage of glucocerebroside into glucose and ceramide.
If the enzyme is absent or less active than normal, there is an accumulation of the fatty substances (glucocerebrosides), especially in the so-called macrophages, the scavenger cells of the body. Enlarged macrophages with undigested glucocerebroside are called Gaucher cells. They are most commonly found in the spleen, liver, and bone marrow.
Gaucher cells and their consequences
The affected organs are enlarged as a result of the metabolic disease, and their function is also impaired as a result. In the bones, the Gaucher cells displace the bone marrow. This gradually makes them unstable, and bone fractures may occur.
However, Gaucher cells can also be stored in other tissues, including:
- The lymphatic system
- The lungs
- The skin
- The eyes
- The kidney and
- In the nervous system (very rarely)
Gaucher disease affects about one in 20,000 people, making it considered a rare disease.
