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Со временем накопление липидов может привести к необратимому повреждению клеток и тканей, особенно головного мозга, периферической нервной системы, печени, селезёнки и костного мозга [1](https://tr-page.yandex.ru/translate?lang=en-ru&url=https%3A%2F%2Fen.wikipedia.org%2Fwiki%2FLipid_storage_disorder). \n\nК липидозам относятся, например: \n* болезнь Ниманна-Пика [1](https://tr-page.yandex.ru/translate?lang=en-ru&url=https%3A%2F%2Fen.wikipedia.org%2Fwiki%2FLipid_storage_disorder); \n* болезнь Фабри [1](https://tr-page.yandex.ru/translate?lang=en-ru&url=https%3A%2F%2Fen.wikipedia.org%2Fwiki%2FLipid_storage_disorder); \n* болезнь Краббе [1](https://tr-page.yandex.ru/translate?lang=en-ru&url=https%3A%2F%2Fen.wikipedia.org%2Fwiki%2FLipid_storage_disorder); \n* болезнь Гоше [1](https://tr-page.yandex.ru/translate?lang=en-ru&url=https%3A%2F%2Fen.wikipedia.org%2Fwiki%2FLipid_storage_disorder); \n* болезнь Тея–Сакса [1](https://tr-page.yandex.ru/translate?lang=en-ru&url=https%3A%2F%2Fen.wikipedia.org%2Fwiki%2FLipid_storage_disorder).\n\n## Причины\nОпределяющий фактор развития липидозов — **генетический дефект**, который обуславливает полную или частичную недостаточность лизосомальных ферментов, расщепляющих сложные липиды [2](https://www.KrasotaiMedicina.ru/diseases/genetic/lipoidosis). Наследование болезней происходит по аутосомно-рецессивному механизму: новорождённый оказывается больным, если получает мутационный ген от каждого родителя [2](https://www.KrasotaiMedicina.ru/diseases/genetic/lipoidosis). Когда мутация передаётся только от матери или отца, то ребёнок является её носителем и остаётся здоровым [2](https://www.KrasotaiMedicina.ru/diseases/genetic/lipoidosis).\n\n## Симптомы\nКлиническая картина липидозов определяется особенностями вовлечения в патологический процесс органов и систем [2](https://www.KrasotaiMedicina.ru/diseases/genetic/lipoidosis). Например: \n* **При болезни Гоше I типа** поражается печень, селезёнка, кости и костный мозг: симптомы включают увеличение размеров печени, хрупкость костей, анемию, лейкопению, снижение свёртываемости крови [2](https://www.KrasotaiMedicina.ru/diseases/genetic/lipoidosis). \n* **У людей с галактозилцерамидным липидозом (болезнью Краббе)** снижается функциональность миелиновой оболочки: развивается гипервозбудимость, рвота, судороги, задержка психомоторного развития с прогрессирующим снижением интеллекта и зрения [2](https://www.KrasotaiMedicina.ru/diseases/genetic/lipoidosis).\n\n## Диагностика\nДиагностика липидозов основана на лабораторных исследованиях ферментативной активности, количества токсичного субстрата и наличия мутации в генах [2](https://www.KrasotaiMedicina.ru/diseases/genetic/lipoidosis)[14](https://a-clinics.ru/articles/nasledstvennye-bolezni/lipoidozy-lizosomnye-bolezni-nakopleniia-lipidov-lipidozy-retikyloendoteliozy/). Также могут использоваться: \n* **Количественное исследование липидов** — содержание патологически накопленных липидов и промежуточных продуктов их метаболизма анализируется в крови и биопсийном материале органов [14](https://a-clinics.ru/articles/nasledstvennye-bolezni/lipoidozy-lizosomnye-bolezni-nakopleniia-lipidov-lipidozy-retikyloendoteliozy/). \n* **Визуальные исследования органов** — диагностируется состояние поражённых органов: сердца, печени, желчного пузыря, селезёнки, лёгких, почек, головного мозга (УЗИ, МРТ, КТ, ЭКГ, ЭЭГ) [14](https://a-clinics.ru/articles/nasledstvennye-bolezni/lipoidozy-lizosomnye-bolezni-nakopleniia-lipidov-lipidozy-retikyloendoteliozy/).\n\n## Лечение\nОбщая схема лечения липидозов включает [14](https://a-clinics.ru/articles/nasledstvennye-bolezni/lipoidozy-lizosomnye-bolezni-nakopleniia-lipidov-lipidozy-retikyloendoteliozy/): \n* **Заместительную ферментную терапию** — вводят искусственно изолированные препараты с дефицитом ферментов, которые позволяют восстановить липидный обмен [14](https://a-clinics.ru/articles/nasledstvennye-bolezni/lipoidozy-lizosomnye-bolezni-nakopleniia-lipidov-lipidozy-retikyloendoteliozy/). \n* **Субстрат-редукционную терапию** — лечение направлено на снижение интенсивности образования патологически накопленных соединений (сложных липидов, их метаболитов) [14](https://a-clinics.ru/articles/nasledstvennye-bolezni/lipoidozy-lizosomnye-bolezni-nakopleniia-lipidov-lipidozy-retikyloendoteliozy/). \n* **Симптоматическую терапию** — лекарства подбираются индивидуально, исходя из клинической картины заболевания [14](https://a-clinics.ru/articles/nasledstvennye-bolezni/lipoidozy-lizosomnye-bolezni-nakopleniia-lipidov-lipidozy-retikyloendoteliozy/). 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