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Hereditary angioedema is a rare (orphan) disease associated with the development of angioedema of various localization caused by the action of bradykinin. The main symptoms of the disease are peripheral angioedema, abdominal attacks (accompanied by severe pain syndrome), edema of the upper respiratory tract, which may lead to asphyxia and death of the patient. Peripheral edema disrupts social and professional activity, the occurrence of facial edema complicates social adaptation, the unpredictability and potential threat to life of edema in the larynx, as well as the lack of effect from standard (systemic glucocorticoid and antihistamines) therapy regimens lead to a low quality of life of patients, a large number of days of disability, hospitalizations, in some cases, premature death of patients. According to international studies, on-demand therapy does not reduce the burden of the disease, and therefore international guidelines emphasize the importance of timely and individualized selection of long-term prevention for patients with hereditary angioedema. Taking into account the appearance of a new drug for long-term prevention in Russia, an Expert Council was held to assess the burden of the disease in Russian patients, determine the proportion of patients who need long-term prevention, criteria for choosing a medication for prophylaxis and the place of Lanadelumab in it.

Заместительная терапия препаратами иммуноглобулинов у пациентов с первичными иммунодефицитами в Российской Федерации

Hereditary angioedema is a rare, potentially life-threatening genetic disease that manifests with skin and mucous/submucosal swelling that occurs under the influence of bradykinin. The clinical guidelines for hereditary angioedema (code for the International Statistical Classification of Diseases and Related Health Problems D84.1) were developed in December 2020 by the Russian Association of Allergology and Clinical Immunology, Association of Medical Geneticists, National Association of Experts in the Field of Primary Immunodeficiencies, Union of Pediatricians of Russia. In December 2020, the project was approved at a meeting of the Scientific and Practical Council of the Ministry of Health of the Russian Federation (December 10, 2020 No. 743/12). The clinical guidelines are devoted to optimizing the clinical care of patients with hereditary angioedema. The topic is relevant owing to the under-diagnosis of hereditary angioedema and insufficient awareness of doctors of various specialties about this problem, as well as the difficulties in managing this category of patients. The clinical guidelines contain information about the epidemiology, etiology, classification, pathogenesis, and common clinical manifestations of hereditary angioedema. Thus, the paper described actual diagnostic approaches and differential diagnosis of hereditary angioedema and established its diagnostic criteria. Medical care algorithms to patients with hereditary angioedema at the prehospital and hospital stages are also described. The principles of pharmacotherapy, including long-term prophylaxis, short-term prophylaxis, and acute therapy, for hereditary angioedema are also presented. Treatment regimens are stratified according to patients age and gender. Non-drug measures for the prevention hereditary angioedema attacks are considered. Sections were also added in the edition of the new clinical guidelines of hereditary angioedema. Clinical guidelines for hereditary angioedema are intended for practicing doctors of all specialties, students and teachers of medical universities, residents, graduate students of medical universities.

Chronic granulomatous disease is a primary immunodeficiency, characterized by a violation of the oxygen-dependent mechanisms of phagocytosis. Mutations in the genes encoding proteins of the NADPH-oxidase complex lead to a violation of the respiratory burst. Clinical manifestations are recurrent bacterial and fungal infections, and the development of granulomatous complications due to a defect in autophagy, accompanied by an increase in the level of interleukin-1 inthe blood. The treatment of this disease is continuous preventive antimicrobial therapy, and specific therapy for the treatment of granulomatous complications. Hematopoietic stem cell transplantation from an allogeneic or unrelated donor is currently considered to be only radical treatment for CGD. This article presents a clinical case of the manifestation of an X-linked form of chronic granulomatous disease with granulomatous manifestations in the absence of an infectious history. Parents patient agreed to use personal data in research and publications.