Classification according to severity

Type I of Gaucher’s disease is also called “non-neuropathic form”. This means that no nerve damage occurs in this form. Here, the enzyme glucocerebrosidase is still working to a certain extent, so that the first problems occur in adulthood.

These manifest themselves through enlargement of the spleen and liver. These organs also break down more blood cells. A decrease in red blood cells leads to an increased tendency to bleed.

With reduced white blood cells, however, the immune system is weakened. The second form of Gaucher’s disease has the medical term “acute neuropathic form”. This type II shows severe damage to the nerves even in babies.

This type is the most severe form. The cause of this is the marked loss of function of the affected enzyme. Damage to organs occurs at a very early age.

It is therefore possible that the small babies suffer from a mental handicap and further restrictions of the nerve function. In terms of intensity, type III Gaucher’s disease is somewhere between type I and type II. The medical term for this form is chronic neuropathic form.

This otherwise rare disease is more common in Swedish families. Mostly the first symptoms appear in infancy. These consist, for example, of fever, weakness, mental retardation and other nerve damage. The growth rate of these children is also reduced compared to others.

The symptoms

Through the deposition of sugary fatty substances in cells of the body, the body reacts with inflammation in the affected organs. This then manifests itself in the typical symptoms of Gaucher’s disease, such as enlargement of the spleen and liver, fatigue, weakness, anaemia and also problems in the bones. The number of red and white blood cells is often reduced, resulting in an increased tendency to bleed and a weakened immune system.

An increased bleeding tendency is often first noticed by many bruises, bleeding from the nose and gums. In approximately every 20th patient, there is also severe damage to the nerves. Increased bone fractures, for example in the vertebral bodies, can also lead to narrowing of the nerve channels.This can also affect the nerves and limit their function. The symptoms of Gaucher’s disease can partly be explained as a logical conclusion of the reduced activity of the enzyme. However, the damage to the nerves is not yet sufficiently understood.