Mastocytosis is a rarely occurring disease in which there is an abnormal accumulation of so-called mast cells (defense cells). These can accumulate to an increased extent in the skin or also in the internal organs. In most cases, mastocytosis is harmless; however, in some cases it can also be aggressive or malignant.
What is mastocytosis?
The term mastocytosis is used by physicians to describe a very rarely occurring disease. In this, there is an increased and eventually pathological accumulation of mast cells. These are involved in the immune defense system and secrete messenger substances such as histamine. In the case of an increased accumulation of mast cells, this leads to a kind of allergic reaction to certain triggers. Basically, two types of mastocytosis are distinguished: Cutaneous mastocytosis affects only the skin, while systemic mastocytosis affects internal organs or tissues. Mastocytosis may be completely asymptomatic or, in more severe cases, may severely restrict the daily life of the affected person. Outbreaks often occur due to certain triggers such as food or other illnesses. The exact causes of mastocytosis are not yet known.
Causes
Why mastocytosis occurs in some people has not yet been clearly determined. However, in many adult patients, scientific research has identified a gene mutation that may be related to the development of mastocytosis. This is a mutation of the growth receptor KIT, which is located on the mast cells. This mutation leads to uncontrolled growth of the cells and, as a consequence, eventually to mastocytosis. No such mutation has been detected in children suffering from mastocytosis. It is a mutation that has no effect on the actual germ cell and thus is passed on by inheritance only in the rarest cases.
Symptoms, complaints, and signs
Mastocytosis can cause quite different complaints and symptoms. Some patients experience hardly any symptoms, while other patients experience serious symptoms. Exactly which symptoms occur depends on where in the body they occur and how much the mast cells are increased. The signs of mastocytosis can range from fatigue and skin irritation to stomach pain, nausea and vomiting. Typically, the symptoms appear on the surface of the skin. Then, brown-red patches form on the trunk, thighs and buttocks. The spots can range in diameter from three millimeters to several centimeters, with adults usually having small spots and children usually having large spots. If the spots are touched, an unpleasant itching sensation occurs in the affected area. As the disease progresses, wheals develop and multiply, causing a reddish rash. The skin changes occur in all forms of mastocytosis and often regress on their own. Complaints such as weight loss, shortness of breath, fever and hot flushes, which occur in the advanced stage of the disease and must be treated, are different. In severe cases, circulatory collapse may occur. The symptoms usually occur in stressful situations, for example under stress or after the consumption of alcohol or large meals.
Diagnosis and course
Mastocytosis can be diagnosed (in the cutaneous form of the disease) in some cases by typical red-brown skin changes. Often, however, an accurate diagnosis causes problems for the treating physician, since the disease does not always manifest itself by such typical symptoms. A tissue sample of the skin and, if necessary, also of the bone marrow can provide information about the presence of mastocytosis. In a comprehensive blood test, an elevated tryptase value indicates mastocytosis. This is a protein present in mast cells and its level increases when there is an increased presence of them. The course of mastocytosis depends to a large extent on the individual characteristics of each case. Only rarely is a significant reduction in quality of life to be expected.
Complications
As a result of mastocytosis, affected individuals primarily suffer from skin complaints. Relatively severe redness and pigmentary abnormalities occur, and pigmented spots may also appear.Not infrequently, mastocytosis thus leads to reduced self-esteem or inferiority complexes, as those affected feel uncomfortable or thus ashamed of their appearance. Similarly, swelling or vesicles appear on the affected skin areas and papules continue to form. Patients also suffer from vomiting or nausea. Furthermore, there is discomfort in the stomach or diarrhea and a stomach ulcer may develop. In the further course, a sharp drop in blood pressure occurs, which can also lead to a loss of consciousness. The quality of life is significantly reduced and limited by the complaints and symptoms of mastocytosis. As a rule, the complaints can be well limited and controlled with the help of medication. Complications do not occur. However, the basic disease itself must also be treated and treated so that the complaints do not occur during the twitch. Whether this results in a reduced life expectancy can usually not be universally predicted.
When should you see a doctor?
If symptoms such as a diffuse feeling of illness or a decreased sense of well-being occur, it is advisable to consult a physician for clarification of the symptoms. If stomach pain, digestive tract discomfort, nausea or vomiting occur, a physician is needed. If there is increased fatigue, rapid exhaustion or lassitude, a visit to the doctor should be made. The present irregularities indicate a health impairment and should be cleared up in medical tests. Changes in the appearance of the skin, the formation of wheals or swellings are warning signs of the organism. They should be investigated and treated. Spots on the skin or discoloration should be discussed with a physician. If existing symptoms gradually increase or continuously spread, a visit to the doctor is necessary. Persistent itching, hot flashes or increased body temperature should also be presented to a doctor. If the affected person suffers from shortness of breath or intermittent breathing, there is cause for concern. Sleep disturbances, inner weakness as well as a decrease of the usual efficiency are further signs of a present disturbance in the organism. If there are irregularities in the heart rhythm, anxiety due to breathing disorders or a decrease in concentration, a doctor should be consulted. In the event of a collapse of the circulatory system, an ambulance should be alerted immediately and first aid measures should be initiated.
Treatment and therapy
Treatment of mastocytosis usually involves alleviation of individual symptoms and, if the particular triggers are known, avoidance of them. Therapy may include, for example, the administration of certain medications, such as antihistamines, as used for allergies, or preparations containing cortisone. Particularly occurring itching and similar symptoms can be alleviated in this way. Painkillers can be taken if necessary. If the exact triggers for the allergy-like symptoms are known, these should be avoided in any case. These may include, for example, alcohol, spicy foods, certain foods, or insect venoms. Mastocytosis patients should nevertheless always carry an emergency kit containing medications to be administered in the event of a severe reaction to a trigger. Even though mastocytosis is often harmless and virtually unnoticeable or is readily treatable with targeted therapy, the disease is not curable.
Outlook and prognosis
The prospects of cure depend on the time at which mastocytosis has occurred. Basically, forms of the disease can be distinguished in children and adults. For children, a good prognosis can be formulated. The symptoms usually disappear after the second and third year of life. Subsequently, those affected can continue to lead a sign-free life. Only in rare cases does a chronic form of the disease develop. This means that the characteristic symptoms are then permanently present. In adults, mastocytosis first appears during puberty. Here, the prognosis is significantly worse. This is because in the majority of cases the typical skin patches and other symptoms remain for the rest of the patient’s life. They may even increase slightly. Improvement, including a cure, occurs in only about one in ten patients.Sometimes adult patients succeed in alleviating symptoms by avoiding certain triggers. Many affected persons experience the burden of mastocytosis as low. Since the disease is rarely malignant, there is usually no shortened life expectancy. Even without treatment, the symptoms disappear in the greater number of children. Adults, on the other hand, must live with the signs of mastocytosis.
Prevention
Since the exact causes of mastocytosis are not yet known, prevention in the true sense is not possible. However, if a disease already exists or if symptoms suggesting it occur, regular visits to the doctor should be made to monitor the health of the affected person. A healthy lifestyle and avoidance of the individual triggers can help to contain the disease and significantly alleviate any symptoms that occur.
Follow-up
Because mastocytosis is not curable and treatment is complex and lengthy, aftercare focuses on managing the disease well. Affected individuals should try to focus on a positive healing process despite the adversity. To build the appropriate mindset, relaxation exercises and meditation can help calm and focus the mind. Furthermore, if any unexpected discomfort occurs, this should be discussed immediately with the attending physician to prevent further worsening of the symptoms. The earlier a doctor is contacted, the better the further course of the disease usually is. As a rule, mastocytosis leads to very severe fatigue and exhaustion of the affected person. In the long term, the stress of the disease can lead to the development of depression or other psychological disorders. It is important to monitor this and, if necessary, to clarify it with a psychologist. Therapy can help to better accept the situation and improve the quality of life.
What you can do yourself
To date, no effective therapy exists for mastocytosis. Therefore, it is important for those affected to live with as few symptoms as possible. This can be achieved with the help of symptom-oriented therapy and by avoiding individual triggers. Foods and agents that promote the products of mastellcytokines and thus cause the symptoms should therefore be avoided. A low-histamine diet includes, on the one hand, the avoidance of certain foods and beverages. Which foods are tolerated varies from person to person and is best determined with the help of a diet plan. In addition, some guiding principles apply. For example, foods that are stored for a longer period of time generally contain more histamines. Cooking, freezing, baking or frying destroys the substance. Home-prepared meals are also tolerable. Alcohol, on the other hand, should be avoided, because beer, wine and the like inhibit the histamine-degrading enzyme. Furthermore, an emergency kit should always be at hand, because an anaphylactoid reaction can occur even without recognizable triggers. Such an emergency kit contains, depending on the triggers and the severity of the condition, antihistamines, glucocorticoid and an adrenaline auto-injector. The details of which agents should be carried must always be clarified with the responsible physician.
