A family case of hereditary angioedema type II

Hereditary angioedema (NAO) is a rare, potentially life-threatening genetically determined disease that belongs to primary immunodeficiency without infectious manifestations. The main manifestations of NAO are localized, acute, transient, recurrent edema of the skin or mucous membranes, which persist from several hours to several days. The cause of edema is a genetic defect that causes dysfunction or deficiency of the C1 esterase inhibitor of the complement component, which leads to an increase in the formation of bradykinin, which increases the permeability of the vascular wall, and therefore therapy with systemic corticosteroids and antihistamines is not effective. The clinical feature of edema is the absence of itching and hyperemia of the skin, as well as concomitant urticaria. The relevance of the problem is associated with the low awareness of doctors about this disease, which is the reason for its rare detection and late diagnosis. A clinical case of NAO with normal C1 inhibitor levels, but with significantly reduced function and mutation in the SERPING 1 gene in three patients is presented. The peculiarity of this case was the late diagnosis (10–29 years after the onset of the disease), burdened heredity (the presence of a similar mutation in 3 blood relatives), a combination of peripheral edema, swelling of the face, tongue, larynx and abdominal attacks in the clinical picture of the mother and children. The symptoms significantly disrupted daily activities, reduced the quality of life of patients, and they used drugs for a long time that did not affect the course of the disease. Due to the severity of the disease, the mother was recommended long-term prophylaxis with lanadelumab, which is a human monoclonal antibody that binds plasma kallikrein, preventing the release of bradykinin, the main mediator of edema in NAO.

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