Возможности генетической диагностики для определения тактики лечения у пациентов с семейной гиперхолестеринемией
DOI:
https://doi.org/10.34687/2219-8202.JAD.2023.04.0001Аннотация
Генетическая диагностика все больше внедряется в различные области медицины. При разной патологии ее значимость в оценке прогноза и выбора тактики лечения сильно варьирует. Генетическая диагностика при дислипидемиях рекомендуется для подтверждения диагноза наследственной дислипидемии и семейного скрининга родственников пробанда, однако ее результат до недавнего времени практически не оказывал влияние на выбор терапии. Уровень липидов на 40-70% зависит от наследственности, при этом выявлено более 157 локусов, ассоциированных с уровнями липидов. Гиперхолестеринемию (ГХС) можно разделить на моногенную и полигенную. В случае моногенной ГХС имеется патогенная мутация, как причина заболевания. В случае полигенной имеется совокупность нескольких генетических вариантов, которые вместе дают выраженное повышение уровня холестерина липопротеидов низкой плотности (ХС ЛНП). В данном обзоре обсуждаются варианты моногенных дефектов, обуславливающих развитие нарушений липидного обмена, а также современные возможности их терапевтической коррекции.
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