СОВРЕМЕННЫЕ ПОДХОДЫ К ЛЕЧЕНИЮ СЕМЕЙНОЙ ГОМОЗИГОТНОЙ ГИПЕРХОЛЕСТЕРИНЕМИИ

Семейная гиперхолестеринемия остается малоизвестным заболеванием в клинической практике педиатра, что ведет к запоздалой диагностике и позднему началу терапии этого прогностически крайне неблагоприятного заболевания. В статье изложены современные представления об этиологии, генетичеcких аспектах. Представлены критерии диагностики и современные подходы к лечению. Основные клинические проявления заболевания —кожные и сухожильные ксантомы, липоидная дуга роговицы, генерализованный атеросклероз коронарных, брахеоцефальных и бедренных артерий. Следствием этих изменений является возникновение уже в детском возрасте ишемической болезни сердца и инфаркта миокарда. Продемонстрирована эффективная гиполипидемическая терапия у ребенка с гомозиготной гиперхолестеринемией (двемутации в компаунд-гомозиготном состоянии в гене LDLR). На первом этапе ребенок получал комбинированную терапию статинами (розувастатин в комбинации с эзетролом). Подключение третьего препарата — ингибитора пропротеинконвер-тазы 9-го типа позволило снизить уровень холестерина липопротеинов низкой плотности еще на 15%, что сопровождалось регрессом ксантом. Побочных проявлений терапии не наблюдалось.

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