Metabolic disease: Gaucher disease

Gaucher disease is a very rare metabolic disease that can occur in both children and adults. This disease can cause problems with the skeleton, causing bone pain. Due to the rare nature of this disease and the non-specific symptoms, it can be quite difficult to diagnose this disease. In addition to painful bones, the patient will feel very tired and the spleen is somewhat enlarged, which may cause side pain during exercise.

What Gaucher’s disease entails

Gaucher disease is a serious rare hereditary metabolic disease with a progressive course. This means that the disease is getting worse. It is estimated that 1 in 40,000 people worldwide have this disease. This is caused by the improper functioning of a certain enzyme. The enzyme that does not work properly in people with this disease is called glucocerebrosidase. This enzyme helps the body break down the substance glucocerebroside . This is a fatty substance that is stored in certain body cells, called lysosomes . This is a kind of processing factory.” In people who have Gaucher disease, the functioning of this enzyme is disrupted in such a way that a fatty substance called lipid accumulates in certain body cells. Lipid accumulation in organs and bones can cause mild to severe symptoms. The disease can manifest itself from infancy to old age. The disease was described in 1882 by the French physician Philippe Gaucher, after whom the disease was named.


This disease causes a brownish discoloration, especially of the mucous membrane of the eyes. The organs liver and spleen are enlarged. When the glucocerebrosides accumulate (accumulate) in the cells of the eyes, yellow spots called pingueculae are formed . Pain in the bones can occur due to accumulation in the bone marrow. The first symptoms are often non-specific. This means that they are not brought about by any particular cause. There is often pain in the bones and a tendency to bleed due to blood clotting disorders. An enlarged spleen is often discovered. The patient often feels this pain in the spleen when exercising. In addition, the patient feels tired. Children often experience reduced growth.


Sometimes it is difficult to diagnose Gaucher disease because the disease is quite rare and the symptoms are not particularly specific. It is important to provide the patient with proper treatment in a timely manner because this disease causes irreparable damage. In some cases, a general blood test may reveal that there is a shortage of platelets and/or white blood cells. A biopsy (= removing a piece of tissue) of the bone marrow can show that Gaucher disease is present. A measurement of enzyme activity, in which the enzyme glucocerebrosidase is measured in the white blood cells or fibroblasts (= young connective tissue), is a specific and definitive test.

The importance of timely treatment

If this disease is not treated in time, serious skeletal problems can arise. The blood circulation in the bones is disturbed, causing too little blood and oxygen to reach the bones. The bones then become very painful and brittle, making them easier to break. The so-called “Gaucher cells” accumulate mainly in the organs spleen, liver and bone marrow. The organs can no longer function properly, which can cause all kinds of serious complaints such as anemia, clotting disorders and pain attacks in the bones.


Gaucher’s disease has been a disease for which no treatment was possible for a long time. Only supportive measures were possible. Enzyme replacement therapy has been available since 1997. Special enzymes are administered through the blood vessels that the patient cannot produce himself or cannot produce to a sufficient extent. These enzymes are developed especially for this purpose using a special technique ( recombinant DNA technology ).
Enzyme replacement therapy can break down the accumulated substances glucosylceramide in the organ tissues, which can prevent, reverse or stabilize progressive deterioration.

Treating symptoms

Pain complaints caused by intense pain attacks in the bones can be treated by administering morphine-like substances. Severe anemia can be combated by administering blood. Physiotherapy can ensure that the muscles remain more flexible, allowing the patient to move better. Sometimes muscles can be made weaker by medication so that it feels more comfortable.

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