Консилиум у 9-летнего мальчика с уровнем холестерина 20 ммоль/л: от постановки диагноза к эффективному лечению

Семейная гиперхолестеринемия (СГХ) - самая частая и самая тяжелая форма моногенных дислипидемий с ранним и быстро прогрессирующим развитием атеросклероза и его осложнений [1-4, 12, 14]. Без лечения больные с СГХ имеют такой же тяжелый прогноз, как пациенты со СПИДом. Для этого генетического заболевания впервые был описан молекулярный дефект - отсутствие или дисфункция ЛНП рецепторов (ЛНП-Р) печени, основного пути катаболизма холестерина у человека [2, 3, 12, 13]. В настоящей работе представлен разбор клинического случая этого заболевания у 9-летнего мальчика.

семейная гиперхолестеринемия, моногенная дислипидемия, наследование, холестерин, липопротеиды низкой плотности, familial hypercholesterolemia, monogenic dyslipidemia, inheritance, cholesterol, low density lipoprotein

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