Related Experiment Video

Updated: Feb 26, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
10:56

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

8.6K

Knowns and unknowns in the care of pediatric familial hypercholesterolemia

Andrew C Martin1, Samuel S Gidding2, Albert Wiegman3

  • 1Princess Margaret Hospital for Children, Perth, Western Australia, Australia.

Journal of Lipid Research
|July 14, 2017
PubMed

Insights

Familial hypercholesterolemia (FH) is a common genetic disorder causing high LDL cholesterol. Early treatment in children with FH is crucial to prevent premature cardiovascular disease.

Area of Science:

  • Cardiovascular Genetics
  • Pediatric Endocrinology
  • Public Health

Background:

  • Familial hypercholesterolemia (FH) is a prevalent genetic disorder characterized by elevated LDL cholesterol from birth.
  • Untreated FH significantly increases the risk of atherosclerosis and premature coronary artery disease (CAD).
  • Mendelian randomization studies confirm LDL cholesterol's causal and cumulative role in CAD risk.

Purpose of the Study:

  • To review current knowledge on the detection and management of pediatric FH.
  • To identify gaps in understanding and care for children with FH.
  • To inform the development of an improved care model for pediatric FH.

Main Methods:

  • Literature review of existing studies on pediatric FH.
  • Analysis of data on FH prevalence and its public health implications.
  • Synthesis of knowns and unknowns in FH detection and management.

Main Results:

  • FH affects at least 1 in 250 individuals, representing a significant public health concern.
  • The majority of children with FH remain undiagnosed globally.
  • Evidence supports early pharmacological intervention for children with FH.

Conclusions:

  • Early diagnosis and treatment of pediatric FH are essential for mitigating long-term cardiovascular risk.
  • Addressing the current diagnostic and management challenges is critical for public health.
  • Further research is needed to refine care models for pediatric FH.

Keywords:
LDL cholesteroladolescentschildrencholesteroldyslipidemiaslipoproteinsscreeningstatins

More Related Videos

LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring08:45

LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring

Published on: November 17, 2018

14.2K
Differential Effects of Lipid-lowering Drugs in Modulating Morphology of Cholesterol Particles09:15

Differential Effects of Lipid-lowering Drugs in Modulating Morphology of Cholesterol Particles

Published on: November 10, 2017

15.2K

Related Concept Videos

Cholesterol: Significance and Regulation01:29

Cholesterol: Significance and Regulation

Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
1.7K
Lipid-Lowering Drugs: Statins and Miscellaneous Agents01:20

Lipid-Lowering Drugs: Statins and Miscellaneous Agents

Hyperlipidemia, a medical condition often referred to as high cholesterol, is characterized by abnormally elevated levels of lipids in the bloodstream. When present in excess, these lipids, specifically cholesterol and triglycerides, can lead to serious health complications, often involving cardiovascular diseases. Illnesses like atherosclerosis, heart attacks, and pancreatitis have all been linked to untreated hyperlipidemia. This means controlling and regulating cholesterol and triglyceride...
1.6K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
49
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
289
Atherosclerosis IV: Nursing Management01:23

Atherosclerosis IV: Nursing Management

Nursing management for a patient with arteriosclerosis involves a comprehensive approach focusing on lifestyle modification, disease monitoring, education, and symptomatic care. Here is an overview of effective nursing strategies:Assessment and Monitoring: Initial and ongoing assessments are crucial. Nurses must document the patient's medical history, including any hypertension, diabetes, hyperlipidemia, and other cardiovascular diseases. Assessments also cover family history and lifestyle...
529
Atherosclerosis III: Management01:26

Atherosclerosis III: Management

Management of atherosclerosis involves an integrated strategy encompassing pharmacological treatment, surgical interventions, lifestyle changes, and nutrition therapy to address the multifactorial nature of the disease.Pharmacological TherapyA cornerstone of atherosclerosis management is the use of pharmacological agents. Statins, such as atorvastatin, are pivotal in inhibiting HMG-CoA reductase, an enzyme that catalyzes an initial step in cholesterol synthesis in the liver. This reduction in...
512