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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-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...
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...
Blood Studies for Cardiovascular System III: Serum Lipid Profile01:25

Blood Studies for Cardiovascular System III: Serum Lipid Profile

Understanding serum lipids is crucial for maintaining cardiovascular health and preventing heart disease and stroke.
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Atherosclerosis II: Clinical Manifestations and Diagnostic Tests

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Related Experiment Video

Updated: May 17, 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].

E Windler1, F-U Beil, C Altenburg

  • 1Endokrinologie und Stoffwechsel des Alterns, Universitätsklinikum Hamburg Eppendorf. Windler@uke.de

Deutsche Medizinische Wochenschrift (1946)
|November 8, 2012
PubMed
Summary
This summary is machine-generated.

Familial hypercholesterolemia, a common genetic disorder, often goes undiagnosed despite clear indicators. Early diagnosis and treatment are crucial to prevent severe cardiovascular events and enable cascade screening in families.

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

Published on: November 17, 2018

Related Experiment Videos

Last Updated: May 17, 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

LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring
08:45

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

Published on: November 17, 2018

Area of Science:

  • Endocrinology and Metabolism
  • Genetics
  • Cardiovascular Medicine

Context:

  • Familial hypercholesterolemia (FH) is a prevalent inherited metabolic disorder.
  • Untreated FH leads to severe cardiovascular complications due to lifelong high cholesterol levels.
  • General practitioners encounter potential FH cases monthly but often miss the diagnosis.

Purpose:

  • To highlight the diagnostic indicators of familial hypercholesterolemia.
  • To emphasize the importance of early diagnosis and treatment initiation.
  • To underscore the missed opportunity for cascade screening in affected families.

Summary:

  • Familial hypercholesterolemia is suspected with LDL-cholesterol ≥ 190 mg/dl, family history of premature cardiovascular disease, or clinical signs like arcus lipoides or xanthomata.
  • Early statin therapy has improved treatment, but successful cholesterol lowering can mask the underlying genetic disorder.
  • Failure to diagnose FH prevents crucial preventive measures for relatives, especially children.

Impact:

  • Increased awareness can lead to earlier diagnosis and intervention for FH patients.
  • Timely treatment can significantly reduce the risk of premature cardiovascular disease.
  • Effective cascade screening can identify and manage at-risk family members, preventing inherited hypercholesterolemia complications.