The person who first described the disease involving abnormal functioning of lysosomes was Philippe Gaucher, a medical student who described the first case of the disease in the 19th century. It was not until the 1960s that the disease could be fully described and its causes identified. There are approximately 10000 people with Gaucher's disease worldwide.

Storage diseases and the cause of Gaucher disease

Gaucher 's disease is classified as a rare lysosomal storage disease. It is a genetically determined disease. A mutation in a gene or genes leads to problems with enzyme synthesis. This results in the accumulation of various substances in lysosomes. In a properly functioning organism, lysosomes are responsible for the lysis of specific substances. Dysfunction of the lysosomes results in the accumulation of various compounds inside these structures that would normally be degraded. In the case of Gaucher disease, the patient's lysosomes do not play their normal role in the degradation of glycolipids. Patients are diagnosed with a mutation in the GBA gene, which encodes the enzyme beta-glucocerebrosidase. The disease is inherited in an autosomal recessive manner, meaning that a child must 'receive' two copies of the mutated gene from his or her parents in order to become ill.

Types of Gaucher disease

Gaucher disease comes in several types.

Type 1 is characterised by relatively minor dysfunction in the enzymatic activity of lysosomes, but patients show dysfunction in the normal function of monocytes and macrophages. The clinical picture shows an enlarged liver and spleen.
Type 2 and 3 - in addition to the symptoms characteristic of type 1, neurological symptoms appear, with a poorer prognosis in type 2. Type 2 is called acute infantile neurological form, type 3 is called acute juvenile neurological form.

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Symptoms of the disease

The symptoms of the disease depend on the type the patient is dealing with. In the case of type 1, the formation of so-called Gaucher cells is observed, i.e. cells of the reticuloendothelial system that are even 'loaded' with glucosylceramide. The cells accumulate in the liver, spleen and bone marrow. Characteristic symptoms include enlargement and soreness of the liver and spleen, anaemia, bone pain, joint degeneration. In the case of type 2, the disease manifests itself even before the end of the 2nd year of life. Characteristic symptoms include seizures, strabismus, psychomotor dysfunction, and laryngeal whe ezing (known as stridor). In the case of type 3, the disease manifests itself somewhat later, in the preschool period. Characteristic symptoms include myotonia, mental retardation and epileptic seizures.

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Diagnostic methods

The basic package of diagnostic tests includes blood tests to determine glucocerebrosidase levels, tests for thrombocythemia, tests for anaemia and blood clotting disorders, analysis of liver and spleen cells for Gaucher cells. Bone densitometry and magnetic resonance imaging are also recommended.

Treatment

Treatment is based on the implementation of supplementation of the missing enzyme. A commonly used method is the use of beta-glucocerebrosidase therapy. With this method, the accumulation of fatty substances in the organs - especially in the liver and spleen - is reduced. In addition to the method based on the administration of the missing enzyme, it is also possible to use so-called substrate restriction - an alternative method for patients for whom the therapy based on the administration of the missing enzyme could not be used. It is important to remember that patients must be treated for the rest of their lives. Complications in Gaucher disease include haemorrhagic complications, septicaemia or growth disorders.

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Gaucher disease - causes, prognosis

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