Treatment of familial hypercholesterolaemia in children and adolescents in the last three decades

Elis, Avishay; Zhou, Rong; Stein, Evan A.

doi:10.1017/s1047951113000528

Cited by 15 publications

(2 citation statements)

References 44 publications

(83 reference statements)

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“…Therefore, a significant number of FH patients are not diagnosed and treated in a timely manner. Foreign research has shown that early diagnosis and intervention can delay the occurrence of complications of atherosclerosis and coronary heart disease in FH patients [20] – [22] . Traditional screening for FH mutations is also infeasible because distribution of the mutation sites is scattered.…”

Section: Discussionmentioning

confidence: 99%

Use of Targeted Exome Sequencing in Genetic Diagnosis of Chinese Familial Hypercholesterolemia

Sun

Pan

et al. 2014

PLoS ONE

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Familial hypercholesterolemia is an autosomal dominant inherited disease characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C). It is mainly caused by mutations of the low-density lipoprotein receptor (LDLR) gene. Currently, the methods of whole genome sequencing or whole exome sequencing for screening mutations in familial hypercholesterolemia are not applicable in China due to high cost. We performed targeted exome sequencing of 167 genes implicated in the homozygous phenotype of a proband pedigree to identify candidate mutations, validated them in the family of the proband, studied the functions of the mutant protein, and followed up serum lipid levels after treatment. We discovered that exon 9 c.1268 T>C and exon 8 c.1129 T>G compound heterozygous mutations in the LDLR gene in the proband derived from the mother and father, respectively, in which the mutation of c.1129 T>G has not been reported previously. The mutant LDL-R protein had 57% and 52% binding and internalization functions, respectively, compared with that of the wild type. After 6 months of therapy, the LDL-C level of the proband decreased by more than 50% and the LDL-C of the other family members with heterozygous mutation also reduced to normal. Targeted exome sequencing is an effective method for screening mutation genes in familial hypercholesterolemia. The exon 8 and 9 mutations of the LDLR gene were pedigree mutations. The functions of the mutant LDL-R protein were decreased significantly compared with that of the wild type. Simvastatin plus ezetimibe was proven safe and effective in this preschool-age child.

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Section: Discussionmentioning

confidence: 99%

Use of Targeted Exome Sequencing in Genetic Diagnosis of Chinese Familial Hypercholesterolemia

Sun

Pan

et al. 2014

PLoS ONE

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“…Atorvastatin and rosuvastatin have the strongest evidence base in children [59•]. The 2011 NHLBI Pediatric Guidelines recommend a starting dose of atorvastatin 20mg daily, although patients with an LDL-C of ≥190mg/dL will often need 40mg of atorvastatin to achieve the 50% reduction in LDL-C suggested by the 2013 ACC-AHA Adult Guidelines.…”

Section: Treatmentmentioning

confidence: 99%

Staying Young at Heart: Cardiovascular Disease Prevention in Adolescents and Young Adults

Chung

Touloumtzis

Gooding

2015

Curr Treat Options Cardio Med

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OPINION STATEMENT Approaches to the prevention and management of cardiovascular disease (CVD) are often too narrow in scope and initiated too late. While the majority of adolescents are free of CVD, far fewer are free of CVD risk factors, especially lifestyle factors such as poor exercise and dietary habits. Most clinicians are familiar with behavioral and pharmacologic strategies for modifying these and other traditional CVD risk factors such as hypertension, hypercholesterolemia, and diabetes. In this review, we highlight those strategies most applicable to teens and also propose a fundamental reframing that recognizes the importance of early choices and life experiences to achieving cardiovascular health. Population- and individual-level approaches that support the establishment of positive health behaviors early in life are the foundation of preserving ideal cardiovascular health and promoting positive cardiovascular outcomes. The Positive Youth Development movement supports a frame shift away from seeing young people as merely the sum of their risk factors and instead as developmentally dynamic youth capable of making healthy choices. Informed by the Positive Youth Development framework, our approach to cardiovascular prevention among adolescents is both broad-based and proactive, paying heed as early as possible to social, familial, and developmental factors that underlie health behaviors, and employing evidence- based behavioral, pharmacologic, and surgical treatments when needed.

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Myopathy in Statin-Treated Children and Adolescents: A Practical Approach

Kavey

2024

Curr Atheroscler Rep

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Treatment of familial hypercholesterolaemia in children and adolescents in the last three decades

Abstract: Long-term statin-based therapy can reduce low-density lipoprotein cholesterol levels in most children and adolescents with heterozygous familial hypercholesterolaemia and decrease cardiovascular risk significantly.

Cited by 15 publications

References 44 publications

Use of Targeted Exome Sequencing in Genetic Diagnosis of Chinese Familial Hypercholesterolemia

Use of Targeted Exome Sequencing in Genetic Diagnosis of Chinese Familial Hypercholesterolemia

Staying Young at Heart: Cardiovascular Disease Prevention in Adolescents and Young Adults

Myopathy in Statin-Treated Children and Adolescents: A Practical Approach

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