SEARCHNARRATIVE_REVIEWcardiology, endocrinology

narrative_review·cardiology, endocrinology, internal medicine, epidemiology, nutrition·PMC10855128

Unveiling Familial Hypercholesterolemia—Review, Cardiovascular Complications, Lipid-Lowering Treatment and Its Efficacy

International Journal of Molecular Sciences · 7 authors, 2 centres

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TL;DR

The review summarizes that elevated LDL-C is the primary factor leading to atherosclerotic plaque formation.

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The review summarizes that elevated LDL-C is the primary factor leading to atherosclerotic plaque formation. Standard management includes lifestyle changes and lipid-lowering treatment with statins, ezetimibe, and PCSK9 inhibitors, with defined LDL-C targets based on ASCVD risk. It also mentions non-pharmacological treatments like diet and lipoprotein apheresis, and notes that many patients fail to achieve target values.

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narrative_review

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cardiology

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100% · A

ORIGINAL PAPER

PMC10855128

Unveiling Familial Hypercholesterolemia—Review, Cardiovascular Complications, Lipid-Lowering Treatment and Its Efficacy

International Journal of Molecular Sciences

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ABSTRACT

Abstract Familial hypercholesterolemia (FH) is a genetic disorder primarily transmitted in an autosomal-dominant manner. We distinguish two main forms of FH, which differ in the severity of the disease, namely homozygous familial hypercholesterolemia (HoFH) and heterozygous familial hypercholesterolemia (HeFH). The characteristic feature of this disease is a high concentration of low-density lipoprotein cholesterol (LDL-C) in the blood. However, the level may significantly vary between the two mentioned types of FH, and it is decidedly higher in HoFH. A chronically elevated concentration of LDL-C in the plasma leads to the occurrence of certain abnormalities, such as xanthomas in the tendons and skin, as well as corneal arcus. Nevertheless, a significantly more severe phenomenon is leading to the premature onset of cardiovascular disease (CVD) and its clinical implications, such as cardiac events, stroke or vascular dementia, even at a relatively young age. Due to the danger posed by this medical condition, we have investigated how both non-pharmacological and selected pharmacological treatment impact the course of FH, thereby reducing or postponing the risk of clinical manifestations of CVD. The primary objective of this review is to provide a comprehensive summary of the current understanding of FH, the effectiveness of lipid-lowering therapy in FH and to explain the anatomopathological correlation between FH and premature CVD development, with its complications. Keywords: familial hypercholesterolemia, atherosclerosis, cardiovascular disease, LDL-C

CITATION EXPORT

Piotr Fularski, Joanna Hajdys, Gabriela Majchrowicz et al.. Unveiling Familial Hypercholesterolemia—Review, Cardiovascular Complications, Lipid-Lowering Treatment and Its Efficacy. International Journal of Molecular Sciences. (2024). https://doi.org/10.3390/ijms25031637

AUTHORS

7 · 2 CENTRES

Piotr Fularski, Joanna Hajdys, Gabriela Majchrowicz, Magdalena Stabrawa, Ewelina Młynarska, Jacek Rysz, Beata Franczyk

1Department of Nephrocardiology, Medical University of Lodz, ul. Zeromskiego 113, 90-549 Lodz, Poland
2Department of Nephrology, Hypertension and Family Medicine, Medical University of Lodz, ul. Zeromskiego 113, 90-549 Lodz, Poland