Gaucher's disease

What is Gaucher's Disease?

Gaucher's disease is a hereditary disease, a genetically transmitted disease in which fats are stored in unusual cells in the body. This means that certain organs whose cells are affected are restricted in their function. Patients are often plagued by severe fatigue, blood anemia, and enlarged liver and spleen.

Medically, Gaucher's disease is also referred to as a lysosomal storage disease. The probability of developing Gaucher's disease is 25% if both parents are healthy and both inherit the gene.

The reasons

Gaucher's disease affects people in whom both parents inherited the gene. If this is the case, an enzyme defect occurs in 25% of children. This leads to a storage of fat and sugar in units of the body cells in which this was not intended. Because of this, those affected cause damage to the cells and thus also to the organs.

The accumulation of too many sugary fatty substances signals the body that there is a malfunction in the metabolism. As a result of this dysfunction, certain messenger substances are released that cause an inflammatory reaction. This initially leads to a restriction in the affected organs. Over time, the organs are permanently damaged by long inflammatory processes. Gaucher's disease can come in many different forms with varying degrees of severity.

Find out all about the topic here: The lipid metabolism disorder.

The diagnosis

If the typical symptoms of Gaucher disease exist, a number of tests are usually carried out in order to gradually establish the rare diagnosis of Gaucher disease. The targeted demand for hereditary diseases in the family and similar symptoms in relatives is always groundbreaking.

After the physical examination, it makes sense to determine the blood cells, which are usually reduced in the case of Gaucher's disease. The goal is then to determine the activity of glucocerebrosidase, the enzyme that is reduced in Gaucher's disease. It must then be determined what effects and damage the disease has already taken in the body.

Also read the article: Storage diseases - Which are there?

The classification according to the degree of severity

Type I.

Type I of Gaucher's disease is also known as the “non-neuropathic form”. This means that there is no nerve damage with this form. Here the enzyme glucocerebrosidase still works to a certain extent, so that the first problems appear in adulthood. These show up by enlarging the spleen and liver. As a result, these organs also break down more blood cells.
A low number of red blood cells leads to an increased tendency to bleed. If the white blood cells are low, however, the immune system is weakened.

Type II

The second form of Gaucher's disease has the medical name "acute neuropathic form". This type II shows severe nerve damage even in babies. This type is the most serious form. The reason for this is the pronounced loss of function of the enzyme concerned.

Damage to organs occurs very early on. It is possible that the little babies suffer from intellectual disabilities and other limitations in nerve function.

More information on the subject Nerve damage you'll find here.

Type III

In terms of intensity of expression, type III of Gaucher disease is between type I and type II. The medical name of this form is chronic neuropathic form. The otherwise rare disease is common in Swedish families.

The first symptoms usually appear in small children. These consist, for example, of fever, weakness, intellectual disability and other nerve damage. The growth rate of these children is also reduced compared to others.

The symptoms

By depositing sugary fatty substances in cells of the body, the body reacts with inflammation in the affected organs. This shows up in the typical symptoms of Gaucher's disease, such as enlargement of the spleen and liver, fatigue, weakness, anemia and problems in the bones. The number of red and white blood cells is often low, so there is an increased tendency to bleed and the immune system is weakened. An increased tendency to bleed is often first noticeable by a lot of bruises, nose and gum bleeding.

In about every 20th patient there is also severe damage to the nerves. Increased bone fractures, for example in the vertebral bodies, can also lead to constrictions in the nerve canals. This can also affect the nerves and limit their function.

The symptoms of Gaucher's disease can in part be explained as a logical conclusion to the decreased activity of the enzyme. However, the damage to the nerves is not yet sufficiently comprehensible.

Read more about the topic here: enlarged liver.

The treatment

In order to tackle the cause of the disease directly, the patient must be supplied with the required enzyme. The therapy of Gaucher's disease consists in administering the enzyme by means of infusions through a venous access. This can be done, for example, once a month in a higher dose or several times a month in lower doses.
The treatment can help control and improve the symptoms and symptoms of Gaucher's disease. For children with stunted growth, the therapy can often lead to a normal growth rate. However, this mainly applies to the non-neuropathic form, i.e. if there is no damage to the nervous system. In the neuropathic form, nerve-damaging consequences are to be expected.The therapy can only improve the problem to a limited extent.

Slight weight gain and, in rare cases, allergic reactions have been reported as side effects during treatment. Overall, it is still very important that the therapy for Gaucher disease is well monitored. To do this, it is important to observe the course of the symptoms. In addition, the activity of the enzyme should be measured regularly so that the right dose for the patient can be found.

As an alternative therapy, there is also the possibility of using drugs to inhibit the production of the substance that is too much deposited in Gaucher's disease.


A patient's diet does not have to be changed directly with Gaucher's disease. Even the smallest amounts of the sugary fatty substances trigger the symptoms. However, you can improve your overall condition through a healthy diet and selected foods.

The anemia associated with the disease often requires an increase in iron, which, in addition to tablets, can be well supported by foods containing iron. In conjunction with vitamin C, the body can also absorb iron better. The reduced bone density in Gaucher's disease can be counteracted by increasing the intake of calcium and vitamin D.

How do you fix an iron deficiency? Find out more about this here.

Life expectancy

Life expectancy in Gaucher's disease depends primarily on the severity and type of the disease.

Type I of Gaucher's disease as a non-neuropathic disease has only a slightly reduced life expectancy. The chronic neuropathic form is characterized by drastic life restrictions and severe suffering on the part of the patient. However, it is difficult to give a precise indication of life expectancy.
However, the worst prognosis is type II. The children usually die of the disease after 2 to 3 years of age.

The course of the disease

As with life expectancy, the course of Gaucher's disease depends heavily on the type of disease present in the patient.

In type I, symptoms often only show up in adulthood. Unfortunately, patients often suffer from type II Gaucher disease from birth until they die of the disease after about 3 years. Type III is also characterized by strong symptoms even in childhood.
The course of the disease can be improved by the therapy described above, especially in types I and III.