When mast cells are activated, they can release certain substances (e.g. histamine) and thus fight pathogens and also mediate allergic reactions. The release of these messenger substances is precisely regulated to prevent excessive release and thus damage to the organism. In mastocytosis, this regulatory mechanism is disrupted due to an acquired genetic change (mutation in the c-Kit gene) and the mast cells release an excessive amount of messenger substances after a stimulus or even without a recognizable trigger. Stress appears to be the most common trigger of mast cell activation.
Systemic and cutaneous mastocytosis
In the case of localized mastocytosis of the skin (“cutaneous mastocytosis”), this usually only leads to local changes in the affected areas of skin (redness and itching). In contrast, systemic mastocytosis, which is characterized by an increase in atypical mast cells outside the skin, is often accompanied by more generalized symptoms. Typical symptoms are: Itching, reddening of the skin and a feeling of heat (“flush”), shortness of breath, fluctuations in blood pressure, palpitations, nausea, vomiting, diarrhea, etc.
As all these symptoms can also occur in other diseases, it often takes a long time before systemic mastocytosis is diagnosed. This makes it clear that a rapid diagnosis of the disease is only possible in close cooperation between different specialist disciplines.
Treatment depends on the stage of the disease
After an appropriate diagnosis (including bone marrow puncture), the treatment of systemic mastocytosis depends on the stage of the disease (indolent vs. aggressive vs. mast cell leukemia). The aim of the therapy is to reduce the symptoms caused by excessive mast cell activation. This can be achieved by:
- Drugs that inhibit the released mast cell messengers (e.g. antihistamines)
- Drugs that inhibit the activation of mast cells, so-called “mast cell stabilizers” (e.g. cromoglicic acid)
- Drugs that influence the growth and survival of mast cells (e.g. interferon and midostaurin)
We offer the entire spectrum of diagnostics and therapy for systemic mastocytosis. We take an interdisciplinary approach to all patients, involving colleagues from other specialist disciplines (in particular allergology, gastroenterology, immunology, pathology and psychiatry).
