НАСЛЕДСТВЕННЫЙ АНГИООТЕК – ПРОБЛЕМА НА СТЫКЕ ИММУНОЛОГИИ И АЛЛЕРГОЛОГИИ: АНАЛИЗ ДАННЫХ ЛИТЕРАТУРЫ И ОПИСАНИЕ СЕРИИ 34 СЛУЧАЕВ

Abstract

Hereditary angioedema (HAE) is a rare autosomal dominant disease characterized by isolated recurrent angioedema (AE) of various localizations: skin, the submucosa in the gastrointestinale tract, the respiratory tract. The characteristic features of edema in HAE are the absence of itching, skin flushing, accompanying urticaria, as well as the absence of pronounced effect of systemic corticosteroid therapy, systemic antihistamines therapy and adrenaline. The aim of our study was to present a descriptive characteristics of the group of patients with HAE and to access efficacy and safety of treatment. Materials and methods: the retrospective multicenter continuous nonrandomized uncontrolled study included data on 34 patients: 19 men (56%) and 15 women (44%) with HAE. The diagnosis of HAE was based on clinical and laboratorial data, according to the clinical guidelines of the Russian Association of allergologists and clinical immunologists on HAE (2014). Results The age range of patients at the time of inclusion in the study was 5–82 years, median – 38,8 (20,6; 46,9) years. Median age of first HAE episode was 12,5 (5,8; 16,3) years, ranged from 2 to 40, 22/28 (79%) of the patients manifested before 18 years. HAE was diagnosed at the median age of 30 years (17,5; 44,8) years, in 14,0 (9,0; 25,0) years after onset of the clinical manifestations. Most of the observations described have a positive family history of HAE (91%), in total 9 families were described. In 67% of families the disease manifested itself in two generations and in 33% of families – in three generations. At the onset of HAE peripheral edema was in 29/31 (94%) of the patients, and 22/31 (71%) had edema confined to the distal extremities. 7/31 (29%) patients had peripheral edema combined with edema of other locations. Abdominal attacks were in 6/31 (19%), head, neck and upper airways edema were in 7/31 (23%). The frequency of swelling of head, neck, upper respiratory tract increased statistically significantly from 23% (7/31) to 35% (7/20, p=0,003). 24 patients have recieved Icatibant treatment. No deaths were recorded against the background of this treatment. Conclusions HAE is diagnosed with significant time delays. Icatibant treatment is safe and effective.