Abstract
Primary immunodeficiency conditions, as genetically determined diseases, have various clinical manifestations and sometimes hide under the masks of other diseases. Hereditary angioedema (HAE) is an orphan genetic disorder that occurs as a result of reduced synthesis of C1-inhibitor (C1-INH) and/or reduced functional activity of C1-INH. A distinctive feature of the HAE is characterized by the localization of edema not only in the head, neck, and upper respiratory tract, but by a combination or isolated edema of the gastrointestinal tract. The provoking factor in the appearance of edema is stressful conditions, medical invasive manipulations, while the duration of edema can last from 2 to 5 days. Decreased synthesis or functional activity of the C1-INH leads to the accumulation of bradykinin. This is the reason for the lack of effect from the administration of epinephrine, systemic glucocorticosteroids, antihistamines, which worsens the prognosis of the disease and acts as a life-threatening condition. HAE belongs to the category of diseases with underdiagnosis, with a lack of alertness among primary care doctors, and also, in the case of an isolated abdominal attack, leads to unjustified surgical interventions. The article, using the example of a clinical case of a patient with HAE identified in the Omsk region, characterizes various variants of clinical manifestations of HAE, demonstrates the role of assessing hereditary anamnesis and edema triggers, emphasizes the importance of timely therapy and modern possibilities of providing medical care to this category of patients to improve the quality and save their lives.
Keywords: hereditary angioedema, primary immunodeficiency, HAE, bradykinin, inhibitor, complement, prevention.
For citation:Nadey E.V., Lepekhina E.S., Usacheva E.V. Clinical case of hereditary angioedema. Clinical review for general practice. 2026; 7 (1): 27–30 (In Russ.). DOI: 10.47407/kr2026.7.1.00747
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