When mast cells are activated, they can release certain substances (e.g., histamine), thereby fighting pathogens and also triggering allergic reactions. The release of these signaling molecules is precisely regulated to prevent excessive release and, consequently, damage to the body. In mastocytosis, this regulatory mechanism is disrupted due to an acquired genetic change (a mutation in the c-Kit gene), and the mast cells release excessive amounts of these signaling molecules following a stimulus or even without a discernible trigger. Stress appears to be the most common trigger of mast cell activation.
Systemic and Cutaneous Mastocytosis
In cases of localized mastocytosis of the skin (“cutaneous mastocytosis”), this usually results only in localized changes in the affected skin areas (redness and itching). In systemic mastocytosis, which is characterized by an increase in atypical mast cells even outside the skin, more generalized symptoms, on the other hand, frequently occur. Typical symptoms include: itching, skin redness and a sensation of heat (“flush”), shortness of breath, fluctuations in blood pressure, rapid heartbeat, nausea, vomiting, diarrhea, etc.
Since all of these symptoms can also occur in other diseases, it often takes a long time to diagnose systemic mastocytosis. This makes it clear that a rapid diagnosis of the disease is only possible through close collaboration among various medical specialties.
Treatment depends on the stage of the disease
Following appropriate diagnostic testing (including a bone marrow aspiration), treatment for systemic mastocytosis is determined based on the stage of the disease (indolent vs. aggressive vs. mast cell leukemia). The goal of treatment is to reduce the symptoms caused by excessive mast cell activation. This can be achieved by:
- Medications that inhibit the release of mast cell mediators (e.g., antihistamines)
- Medications that inhibit the activation of mast cells, known as “mast cell stabilizers” (e.g., cromoglicic acid)
- Drugs that affect the growth and survival of mast cells (e.g., interferon and midostaurin)
We offer the full range of services related to the diagnosis and treatment of systemic mastocytosis. We take an interdisciplinary approach with all patients, involving colleagues from other medical specialties (particularly allergology, gastroenterology, immunology, pathology, and psychiatry).
