Gaucher disease: all you need to know about this orphan disease


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Gaucher disease: all you need to know about this orphan disease


Gaucher's disease, what is it?

Gaucher disease is a hereditary disease called lysosomal. It is caused by a deficient enzyme, glucocerebrosidase, which is used to destroy substances stored in lysosomones. Because of this fragile enzyme, some component cells of lysosomones no longer work. The liver, spleen and bone marrow are directly affected by Gaucher disease.

There are three types of Gaucher disease:

  • Chronic non-neurological type 1 it affects about 95% of patients. The first type is the most common in patients, but it does not reach the nervous system.
  • The acute neurological type 2 In most cases, people with type 2 die before the age of two. It is the most devastating form of Gaucher's disease because it directly attacks the nervous system.
  • Subacute neurological type 3 : Of the other two forms of the disease, type 3 is the least common. It also affects the nervous system but its impact is much weaker than that of type 2.

What are the symptoms of Gaucher's disease?

The symptoms are diverse and their severity varies according to the patient. They can appear at any age:

  • Tired
  • Appearance of hematomas
  • Increased volume of faith and spleen
  • Bone fragility
  • Bleeding (due to a drop in red blood cells)
  • Belly swellings

How is the diagnosis made?

To detect Gaucher disease, a myelogram is often performed first. It is a question of taking a piece of the spinal cord by puncture of the bone of the sternum. Physicians can then identify healthy cells from those with Gaucher disease. But a myelogram is not enough for the diagnosis. An enzymatic assay must then be performed to confirm the presence of the disease or not.

This blood test measures the activity of glucocerebrosidase. For a sick person, the activity of the enzyme will be lower than in a healthy person. To determine the type of Gaucher disease, the blood genetic test is the only solution.

Additional examinations are recommended: a blood test, abdominal ultrasound or MRI to monitor the size of the organs (spleen and liver) and an MRI to monitor bone involvement.

Left-handed disease: what are the treatments?

For the moment, two treatments are possible for types 1 and 3. This is the enzymatic substitution treatment and the substrate reduction treatment. On the other hand, they are totally ineffective for Type 2 Gaucher disease. In order to start a treatment, the diagnosis of the disease must be made quickly. The longer the diagnosis, the more likely the patient is to have irreversible lesions such as fibrous splenomegaly, osteonecrosis, secondary osteoarthritis, or bone deformities.

Read also :

⋙ Hereditary cancer: which cancers can have a genetic origin?

⋙ 5 ideas received about genetic diseases

⋙ Integrative medicine: the medical approach that will revolutionize our health


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