Doctors understand the term mastocytosis to be a very rare disease. This leads to an increased and ultimately pathological accumulation of mast cells.

These are involved in the immune system and release messenger substances such as histamine , for example . An increased accumulation of mast cells leads to a kind of allergic reaction to certain triggers. There are basically two types of mastocytosis: cutaneous mastocytosis only affects the skin , while systemic mastocytosis affects internal organs or tissue.

Mastocytosis can be completely symptomless or, in more severe cases, severely restrict the affected person’s daily life. Outbreaks are often caused by certain triggers such as food or other diseases. The exact causes of mastocytosis are not yet known.

causes

Why mastocytosis occurs in some people has not yet been clearly clarified. However, scientific research has found a gene mutation in many adult patients that could be related to the development of mastocytosis.

This is a mutation of the growth receptor KIT, which is found on the mast cells. This mutation leads to uncontrolled growth of the cells and ultimately to mastocytosis.

No such change was found in children suffering from mastocytosis. It is a mutation that has no effect on the actual germ cell and is therefore only passed on through inheritance in the rarest of cases.

Symptoms, Ailments & Signs

Mastocytosis can cause a wide variety of complaints and symptoms. Some patients hardly experience any symptoms, while other patients experience severe discomfort. Exactly which symptoms occur depends on where in the body they occur and how much the mast cells are increased. The symptoms of mastocytosis can range from tiredness and skin irritation to stomach pain , nausea and vomiting .

Typically, the symptoms appear on the surface of the skin. Then brown-red spots form on the trunk, thighs and buttocks. The spots can range in diameter from three millimeters to a few centimeters, with mostly small spots in adults and mostly large spots in children. If the spots are touched, an unpleasant itching occurs in the affected area.

In the course, wheals develop , which multiply and cause a reddish rash. The skin changes occur in all forms of mastocytosis and often resolve on their own. Other symptoms such as weight loss, shortness of breath , fever and hot flashes , which occur in the advanced stages of the disease and must be treated.

In severe cases, circulatory collapse can occur. The symptoms usually appear in stressful situations, for example under stress or after consuming alcohol or large meals.

Diagnosis & History

In some cases, mastocytosis ( in the cutaneous form of the disease) can be diagnosed by typical red-brown skin lesions. However, an exact diagnosis often causes problems for the treating doctor, since the disease does not always manifest itself through such typical symptoms. A tissue sample of the skin and possibly also of the bone marrow can provide information about the presence of mastocytosis. In a comprehensive blood test , an elevated tryptase level indicates mastocytosis. This is a protein present in mast cells and its level increases when there is an increased abundance of it.

The course of mastocytosis depends largely on the individual characteristics of the individual case. Only rarely is a significant reduction in quality of life to be expected.

complications

Due to mastocytosis, those affected primarily suffer from skin problems. This leads to relatively strong redness and pigment disorders, whereby pigment spots can also appear. It is not uncommon for mastocytosis to lead to reduced self-esteem or to inferiority complexes, since those affected feel uncomfortable or are ashamed of their appearance.Swelling or blisters also appear on the affected skin areas and papules continue to form. Patients also suffer from vomiting or nausea. Furthermore, there are problems in the stomach or diarrhea and a stomach ulcer can develop. In the further course, there is a sharp drop in blood pressure, 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 symptoms can be well limited and combated with the help of medication. There are no complications. However, the underlying disease itself must also be treated and treated so that the symptoms do not occur during the twitching. Whether this will result in a reduced life expectancy cannot generally be predicted universally.

When should you go to the doctor?

If symptoms such as a diffuse feeling of illness or reduced well-being occur, it is advisable to consult a doctor to clarify the symptoms. If you have stomach pain, digestive tract problems, nausea or vomiting, you need to see a doctor. If you experience increased tiredness, rapid exhaustion or exhaustion, you should see a doctor. The irregularities present indicate a health impairment and should be clarified in medical tests. Changes in the appearance of the skin, the formation of wheals or swelling are warning signals from the organism. They should be examined and treated. Stains on the skin or discoloration should be discussed with a doctor.

If existing symptoms gradually increase or spread continuously, a doctor’s visit is necessary. Persistent itching, hot flashes or an increased body temperature should also be presented to a doctor. If the affected person suffers from shortness of breath or pauses in breathing, there is cause for concern. Sleep disorders, inner weakness and a decrease in the usual performance are further signs of an existing disorder 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. If the circuit breaks down, an emergency service must be alerted immediately and first aid measures initiated.

Treatment & Therapy

The treatment of mastocytosis usually includes alleviating the individual symptoms and, if the respective triggers are known, avoiding them. The therapy can, for example, include the administration of certain medications, such as antihistamines , such as those used for allergies , or preparations containing cortisone . Itching and similar symptoms that occur in particular can be alleviated in this way. Painkillers can then be taken if necessary.

If the exact triggers for the allergy-like symptoms are known, they should be avoided in any case. These can include, for example, alcohol, spicy food, certain foods or even insecticides. However, mastocytosis patients should always carry an emergency kit with medication to be administered in the event of a severe reaction to a trigger. Even if mastocytosis is often harmless and goes almost unnoticed or can be easily treated with targeted therapy, the disease cannot be cured.

Outlook & Forecast

The chances of recovery depend on when the mastocytosis occurred. Basically, the forms of the disease in children and adults can be distinguished. A good prognosis can be formulated for children. The symptoms usually disappear after the second and third year of life. Those affected can then continue to lead a symptom-free life. Only in rare cases does a chronic form develop. This means that the characteristic symptoms are then permanent.

In adults, mastocytosis occurs for the first time during puberty. The prognosis here is much worse. Because in the majority of diseases, the typical skin spots and other complaints remain for a lifetime. You can even gain weight easily. An improvement, including a cure, only occurs in about every tenth patient. Adult patients sometimes manage to relieve symptoms by avoiding certain triggers.

Many of those affected find the burden of mastocytosis to be low. Since the disease rarely takes a malignant course, there is usually no shortened life expectancy. Even without treatment, the symptoms disappear in the larger number of children. Adults, on the other hand, have to live with the signs of mastocytosis.

prevention

Since the exact causes of mastocytosis are not yet known, prevention in the true sense of the word is not possible. However, if an illness already exists or symptoms appear that indicate it, regular visits to the doctor should take place in order to monitor the state of health of the person concerned. A healthy lifestyle and avoiding the individual triggers can help to contain the disease and significantly alleviate the symptoms that occur.

aftercare

Because mastocytosis has no cure and treatment is complex and lengthy, follow-up care focuses on managing the condition well. Those affected should try to focus on a positive healing process despite the adversity. To establish the right attitude, relaxation exercises and meditation can help calm and focus the mind.

Should you also unexpectedly feel unwell, this should be discussed immediately with the doctor treating you in order to prevent the symptoms from getting worse. The sooner a doctor is contacted, the better the further course of this disease. As a rule, mastocytosis leads to very strong tiredness and exhaustion in the affected person.

The strains of the disease can promote the development of depression or other mental disorders in the long term. It is important to observe this and, if necessary, to clarify it with a psychologist. Therapy can help to accept the situation better and improve the quality of life.

You can do that yourself

There is currently no effective therapy for mastocytosis. It is therefore 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 drugs that promote the products of mastel cytokines and thus cause the symptoms should therefore be avoided. A low-histamine diet includes avoiding certain foods and drinks. Which foods are tolerated varies from person to person and is best recorded with the help of a nutrition plan. In addition, there are a few guiding principles. Foods that are stored for a longer period of time generally contain more histamines . Cooking, freezing, baking or roasting destroys the substance. Homemade meals are also acceptable. 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 a recognizable trigger. Such an emergency set contains, depending on the trigger and the severity of the disease, such as antihistamines , glucocorticoids and an adrenaline auto-injector. Which means should be carried in detail must always be clarified with the responsible doctor.