Rare Diseases 2022

Mastocytosis: what é, types, symptoms and treatment

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Mastocytosis: what é, types, symptoms and treatment
Mastocytosis: what é, types, symptoms and treatment
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Mastocytosis is a rare disease characterized by the increase and accumulation of mast cells in the skin and other body tissue, leading to the appearance of spots and small reddish-brown dots on the skin that are very itchy, especially when there are changes in temperature. and when skin comes into contact with clothing, for example.

Mast cells are cells produced in the bone marrow, which are found in various tissues of the body and which may also be related to the immune response, especially in allergic responses. However, unlike allergies, the signs and symptoms of mastocytosis are chronic and unrelated to triggering factors.

It is important that mastocytosis is identified and treated according to the doctor's instructions, because in some cases it can also be related to other serious blood disorders, such as acute leukemia, lymphoma, chronic neutropenia and myeloproliferative disorders.

Types of mastocytosis

Mastocytosis happens when mast cells proliferate and accumulate in the body and, according to where these cells are accumulated, mastocytosis can be classified into:

  • Cutaneous mastocytosis, in which mast cells accumulate in the skin, leading to the appearance of cutaneous signs and symptoms, being more frequent in children;
  • Systemic mastocytosis, in which mast cells accumulate in other tissues of the body, mainly the bone marrow, interfering with the production of blood cells. Furthermore, in this type of mastocytosis, mast cells can accumulate in the liver, spleen, lymph nodes and stomach, which may interfere, in some cases, with the functioning of the organ.

As soon as there are more mast cells in the area, signs and symptoms indicative of the disease appear.

Signs and symptoms of mastocytosis

The signs and symptoms of mastocytosis may vary according to the type and are related to the concentration of circulating histamine. This is because mast cells are made up of granules that release histamine. Thus, the higher the mast cell concentration, the higher the histamine concentration, leading to the signs and symptoms of mastocytosis, whose main ones are:

  • Urticaria pigmentosa, which are small reddish-brown dots on the skin that can itch;
  • Peptic ulcer;
  • Headache;
  • Palpitations;
  • Vomiting;
  • Chronic diarrhea;
  • Abdominal pain;
  • Sensation of dizziness when standing up;
  • Numb lips and fingertips.

In some cases, symptoms of mastocytosis may worsen when there are changes in temperature, after consumption of very hot or spicy foods or drinks, after exercising, after contact with clothing, or as a consequence of the use of certain medications.

The diagnosis of mastocytosis is made through blood tests that aim to identify the levels of histamine and prostaglandin D2 in the blood, which must be collected soon after the crisis, or in the 24-hour urine.

In addition, in the case of cutaneous mastocytosis, a histological examination can also be performed, in which a small sample of the lesion is collected and sent to the laboratory to be analyzed and checked for increased amounts of mast cells on fabric.

How is the treatment

Treatment for mastocytosis should be guided by the immunoallergist or general practitioner according to circulating histamine levels, the person's he alth history, and signs and symptoms.

In most cases, the doctor may recommend the use of medication to relieve symptoms, especially antihistamines and corticosteroid creams and ointments. However, when the symptoms are more severe, especially when it comes to systemic mastocytosis, the treatment can be more complicated, and in some cases it may be necessary to perform surgery.

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