Autoimmune diseases
Diagnosis and treatment of mastocytosis abroad
Mastocytosis: features of diagnosis and treatment of a rare disease in clinics in Germany and Israel
Mastocytosis is a heterogeneous group of diseases that develop with the participation of mast cells (mastocytes) and their precursors. The main manifestations of mastocytosis are due to the action of biologically active substances that secrete mastocyte cells, as well as their proliferation in the skin and internal organs.
Mastocytosis is a relatively rare disease that develops in an average of one person in 5-10 thousand. More than 60% of all patients are children. There is no unambiguous data on the causes of the development of mastocytosis. According to some researchers, mastocytosis belongs to a group of systemic diseases involving the reticulo-endothelial system. The role of genetic factors in the development of some clinical forms has been proved.
Mastocytosis: clinical variants of course
According to the WHO classification, there are two main forms of mastocytosis: cutaneous and systemic. The cutaneous form of mastocytosis has the most favorable course and most often occurs in young children. Clinically, it may occur as pigment urticaria (with the formation of multiple spots and papules on the skin, with a diameter of no more than 0.5 cm) or a single (solitary) formation like a nodule or spot with a diameter of about 1 cm - mastocytoma. A characteristic feature of masses in mastocytosis is sensitivity to mechanical stimuli. Friction in the area of the formations can lead to the formation of blisters or blisters. With a large number of formations, a person may develop reactions similar to allergic reactions: itching, reddening of the skin in the face, etc.
With systemic mastocytosis, mast cell proliferation occurs in one or more internal organs, with or without simultaneous skin lesions. Most often this form of the disease occurs in adults. The most severe forms of systemic mastocytosis are considered to be aggressive mastocytosis, leukemia, and mast cell sarcoma.
Systemic mastocytosis may clinically manifest with symptoms of damage to a particular organ, e.g. abdominal pain, stool disorder, nausea, vomiting, spontaneous fractures, etc. In some cases, the disease may have signs characteristic of hematologic disorders, for example: enlargement of the liver and spleen, anemia, tendency to bleeding, etc. Often the examination reveals enlarged lymph nodes, and in blood tests - a reduced level of hemoglobin, platelets, leukocytosis, the presence of blast cells, etc.
Prognosis of the disease
According to numerous patient observations, cutaneous forms of mastocytosis that developed in childhood end in spontaneous remission in 80% of cases. However, in some cases, the patient requires further observation and extended examination to rule out systemic mastocytosis. Patients with suspected systemic mastocytosis always require careful follow-up and observation. The prognosis in severe forms of mastocytosis is more often negative.
Treatment of mastocytosis in clinics in Germany and Israel
Specialists of leading clinics in Germany and Israel have extensive experience in diagnosing and treating patients with mastocytosis. Examination and treatment is carried out according to international clinical protocols.
Examination of a pediatric patient with cutaneous form of mastocytosis, includes performing:
- General clinical examinations
- Determination of tryptase level in blood
- Bone marrow biopsy is recommended in severe clinical cases, as well as in the presence of significantly elevated tryptase levels, hepato- and splenomegaly.
Examination of adult patients with suspected cutaneous mastocytosis includes performing:
- General clinical investigations
- Tryptase blood test
- Bone marrow biopsy.
Examination of adult patients with systemic mastocytosis includes:
- General clinical laboratory tests, with the study of mast cell morphology (search for atypia)
- Investigations with monoclonal AT aimed at searching for antigens: CD117(c-kit), CD25 and CD2.
- Bone marrow biopsies and, if necessary, liver and skin biopsies
- Determination of tryptase levels
- Visualization methods of examination (X-ray, CT, MRI) of gastrointestinal and skeletal organs.
Mandatory for all categories of patients is the consultation of a dermatologist, and in some cases - a doctor of oncology.
Treatment of a patient with mastocytosis depends on the clinical variant of the disease. Therapy is mainly symptomatic and is aimed at prevention and treatment of anaphylaxis, as well as symptoms of allergy, itching, redness of the skin, malabsorption phenomena (digestive disorders in the GI tract).
