Related Experiment Video

Updated: Aug 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

Familial hypercholesterolemia

Rachna Kapoor Seth1, Sheffali Gulati, Sandeep Seth

  • 1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Indian Journal of Pediatrics
|February 26, 2004
PubMed

Insights

Pediatric lipid profile abnormalities, though rare, increase heart disease risk. This case highlights Familial Hypercholesterolemia in a 14-year-old, emphasizing early detection for cardiovascular health.

Area of Science:

  • Pediatric cardiology
  • Clinical lipidology
  • Cardiovascular disease research

Background:

  • Abnormal lipid profiles in children are uncommon but linked to future heart disease.
  • Childhood lipid levels correlate with adult atherosclerotic changes.
  • Familial Hypercholesterolemia is a key genetic disorder affecting lipid metabolism.

Observation:

  • A 14-year-old male presented with symptoms indicative of a lipid disorder.
  • The patient exhibited classic clinical features associated with severe hypercholesterolemia.

Findings:

  • The case presentation strongly suggests Familial Hypercholesterolemia.
  • Diagnostic evaluation confirmed significantly elevated low-density lipoprotein (LDL) cholesterol levels.

Implications:

  • Early identification of pediatric hypercholesterolemia is crucial for preventing premature cardiovascular events.
  • This case underscores the importance of screening for genetic lipid disorders in pediatric patients.
  • Timely intervention can mitigate long-term risks associated with atherosclerosis in youth.

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

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...
Lipid Catabolism01:25

Lipid Catabolism

Triglycerides serve as crucial long-term energy storage molecules in microorganisms, providing a dense source of metabolic energy. Their breakdown is mediated by lipases, which hydrolyze triglycerides into glycerol and free fatty acids. Each of these components follows distinct metabolic pathways, ultimately contributing to ATP synthesis and cellular energy homeostasis.Glycerol MetabolismGlycerol, released from triglyceride hydrolysis, is phosphorylated by glycerol kinase to form...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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...
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...
Lipids: Dietary Sources and Requirements01:18

Lipids: Dietary Sources and Requirements

Lipids are an essential component of a balanced human diet. Triglycerides, which make up the majority of dietary lipids, are found in both saturated fats—commonly present in meat, dairy products, and certain tropical plants like coconut, and hydrogenated oils such as margarine and baking shortenings (trans fats)—and unsaturated fats, which are abundant in seeds, nuts, olive oil, and most vegetable oils. The main sources of cholesterol include egg yolks, various meats and organ meats, shellfish,...