The treatment

To directly address the cause of the disease, the patient must be supplied with the required enzyme. The therapy of Gaucher’s disease therefore consists in the administration of the enzyme by means of infusions through a venous access. This can be done, for example, once a month in a higher dosage or several times a month in lower dosages.

The treatment can control and improve the complaints and symptoms of Gaucher’s disease. For children with growth disorders, the therapy can often result in a normal growth rate. However, this applies mainly to the non-neuropathic form, i.e. when there is no damage to the nervous system.

In the neuropathic form, nerve-damaging consequences are to be expected. The problem can only be improved to a limited extent by therapy. As a side effect under treatment, a slight weight gain is reported and in rare cases allergic reactions.

Overall, it is still very important that the therapy of Gaucher’s disease is well monitored. For this purpose, it is important to observe the progression of the symptoms. In addition, the activity of the enzyme should be measured regularly so that the correct dose for the patient can be found. As an alternative therapy, there is also the possibility of inhibiting the production of the substance that is deposited too much in Gaucher’s disease by means of medication.

The diet

The diet of a patient with Gaucher disease does not have to be changed directly. The symptoms are triggered by even the smallest amounts of sugary fatty substances. However, the overall condition can be improved through healthy nutrition and selected foods.

Anemia in the disease often requires an increase in iron, which can be supported well by iron-containing foods in addition to tablets. In combination with vitamin C, the body can also better absorb the iron. The reduced bone density in Gaucher’s disease can be counteracted by increased absorption of calcium and vitamin D.