2019
DOI: 10.1136/jclinpath-2019-205910
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Inherited metabolic disorders and dyslipidaemia

Abstract: Monogenic dyslipidaemia is a diverse group of multisystem disorders. Patients may present to various specialities from early childhood to late in adult life, and it usually takes longer before the diagnosis is established. Increased awareness of these disorders among clinicians is imperative for early diagnosis. This best practice review provides an overview of primary dyslipidaemias, highlighting their clinical presentation, relevant biochemical and molecular tests. It also addresses the emerging role… Show more

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Cited by 6 publications
(4 citation statements)
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“…The underlying causes of hyperlipidemia can be genetic, including familial chylomicronemia syndrome (FCS), familial dysbetalipoproteinemia (FD), familial hypertriglyceridemia (FHTG), homozygous familial hypercholesterolemia (HoFH), or autosomal recessive hypercholesterolemia (ARH). Additionally, secondary causes of dyslipidemia encompass type 2 diabetes mellitus, obesity, chronic renal failure, cholestasis, or the use of medications such as steroids, thiazide diuretics, and selected beta-adrenergic blockers [10]. Hyperlipidemia is a predominant contributor to morbidity and is strongly linked to an increased risk of atherosclerotic cardiovascular disease (ASCVD) [11,12].…”
Section: Dyslipidemia Its Association With Cardiovascular Disease And...mentioning
confidence: 99%
“…The underlying causes of hyperlipidemia can be genetic, including familial chylomicronemia syndrome (FCS), familial dysbetalipoproteinemia (FD), familial hypertriglyceridemia (FHTG), homozygous familial hypercholesterolemia (HoFH), or autosomal recessive hypercholesterolemia (ARH). Additionally, secondary causes of dyslipidemia encompass type 2 diabetes mellitus, obesity, chronic renal failure, cholestasis, or the use of medications such as steroids, thiazide diuretics, and selected beta-adrenergic blockers [10]. Hyperlipidemia is a predominant contributor to morbidity and is strongly linked to an increased risk of atherosclerotic cardiovascular disease (ASCVD) [11,12].…”
Section: Dyslipidemia Its Association With Cardiovascular Disease And...mentioning
confidence: 99%
“…Elevated LDL levels are implicated in the development of cardiovascular diseases, while hypertriglyceridemia is linked to nonalcoholic fatty liver disease and acute pancreatitis. The TG/HDL ratio is recognized as a marker for metabolic syndrome (Ryan et al, 2018;Sulaiman, 2020;Pirillo et al, 2021). Lipid metabolism also plays a significant role in modulating immune responses, with implications for T cells, macrophages, dendritic cells, and other immune cell types in diseases such as nonalcoholic fatty liver disease, pancreatic fibrosis, and cancer progression (Yan and Horng, 2020;Liu et al, 2021;Yu et al, 2021;Lim et al, 2022;Zhao et al, 2022).…”
Section: Introductionmentioning
confidence: 99%
“…This lipid alteration has various etiologies that can be divided into primary and secondary. The first group consists of genetic diseases, such as familial chylomicronemia syndrome (FCS), familial dysbetalipoproteinemia (FD), familial hypertriglyceridemia (FHTG), homozygous familial hypercholesterolemia (HoFH), autosomal recessive hypercholesterolemia (ARH), et cetera, while the second group includes functioning disorders of specific organs, namely the kidneys, thyroid gland, and liver, or disorders that may occur due to taking certain medications like steroids or selected beta-adrenergic blockers [2]. What is more, a sedentary lifestyle and unhealthy diet also have their own role in dyslipidemia development, even among the youth [3].…”
Section: Introductionmentioning
confidence: 99%