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Патология сердечно-сосудистой системы. Сердечно-сосудистые заболевания (1025) |
![]() EŞANU, Veronica, EŞANU, Valeriu, PÎRŢU, Lucia, PALII, Ina. Importanța identificării, diagnosticul și tratamentul hipercolesterolemiei familiale heterozigote în rândul populației pediatrice. In: Tranziția copilului cu maladii cronice la viața de adult, Ed. Ediția a VI-a, 26-27 mai 2023, Chişinău. Chişinău: Taicom (Ridgeone Group), 2023, Ediția a VI-a, pp. 53-57. |
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Tranziția copilului cu maladii cronice la viața de adult Ediția a VI-a, 2023 |
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Conferința "Tranziția copilului cu maladii cronice la viața de adult" Ediția a VI-a, Chişinău, Moldova, 26-27 mai 2023 | ||||||
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Heterozygous familial hypercholesterolemia (HeFH) is a frequent, autosomal dominant clinical entity (1:220 people worldwide), characterized by an increase in the level of low molecular density lipoproteins (LDL-C), throughout life and which, in the absence of treatment accelerates the onset of atherosclerosis, increasing the risk of cardiovascular events. The most common causes are pathogenic variants (mutations) of the LDL receptor (LDL-R) gene, which are responsible for 85% - 90% of genetically confirmed ones, of the apolipoprotein B (ApoB) gene, which result in decreased binding of LDL to receptor (LDL-R), or of the proprotein convertase subtilisin/kexin 9 (PCSK9) gene, which causes increased destruction of LDL-R, being responsible for 5% - 15% and 1% of cases, respectively. It is crucial to consider the diagnosis of HeHF, in children with LDL-C >160 mg/dL (4.1 mmol/L, persistent!), in adults with LDL-C >190 mg/ dL (4.9 mmol /L) (especially if there is a family history of early CVD) and in all those with early CVD. HeHF is significantly underdiagnosed and undertreated, especially in the pediatric population. The burden of early diagnosis remains on the shoulders of pediatricians, who hold a unique potential to facilitate improved detection and management of this pathology, at least until adulthood. |
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Cuvinte-cheie heterozygous familial hypercholesterolemia, children, семейная гетерозиготная гиперхолестеринемия, дети |
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Cerif XML Export
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The most common causes are pathogenic variants (mutations) of the LDL receptor (LDL-R) gene, which are responsible for 85% - 90% of genetically confirmed ones, of the apolipoprotein B (ApoB) gene, which result in decreased binding of LDL to receptor (LDL-R), or of the proprotein convertase subtilisin/kexin 9 (PCSK9) gene, which causes increased destruction of LDL-R, being responsible for 5% - 15% and 1% of cases, respectively. It is crucial to consider the diagnosis of HeHF, in children with LDL-C >160 mg/dL (4.1 mmol/L, persistent!), in adults with LDL-C >190 mg/ dL (4.9 mmol /L) (especially if there is a family history of early CVD) and in all those with early CVD. HeHF is significantly underdiagnosed and undertreated, especially in the pediatric population. 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Наиболее частыми причинами являются патогенные варианты (мутации) гена рецептора ЛПНП (ЛПНП-Р), ответственные за 85-90% генетически подтвержденных, гена аполипопротеина В (АроВ), которые приводят к снижению связывания LDL к рецептору (LDL-R) или гена пропротеинконвертазы субтилизин/кексин 9 (PCSK9), который вызывает повышенную деструкцию LDL-R, отвечая за 5% - 15% и 1% случаев соответственно. Крайне важно рассмотреть диагноз ГеСГХС у детей с ХС-ЛПНП >160 мг/дл (4,1 ммоль/л, персистирующий!), у взрослых с ХС-ЛПНП >190 мг/дл (4,9 ммоль/л) (особенно при наличии семейного анамнеза ранних ССЗ) и у всех с ранним ССЗ. ГеСГХС в значительной степени недооценивается и недолечивается, особенно в педиатрической популяции. 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