Related Experiment Video
Updated: Apr 25, 2026
10:56
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
7.5K
Familial hypercholesterolemia: developments in diagnosis and treatment
Gerald Klose1, Ulrich Laufs2, Winfried März3
1Private practice for Internal Medicine, Gastroenterology, Cardiology and Preventional Medicine: Dres. T. Beckenbauer und S. Maierhof and joint practice Dres. K. W. Spieker and I van de Loo, Bremen.
Deutsches Arzteblatt International
|August 23, 2014
Summary
Familial hypercholesterolemia (FH) is a common genetic disorder causing high LDL cholesterol and early heart disease. Early diagnosis and statin treatment significantly reduce atherosclerosis risk in affected individuals.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolemia (FH) is a prevalent genetic lipid metabolism disorder.
- Characterized by elevated LDL cholesterol from childhood, leading to early coronary heart disease.
- Affects at least 1 in 500 individuals in Germany, often remaining undiagnosed.
Purpose of the Study:
- To review the diagnosis and treatment of Familial hypercholesterolemia.
- To highlight the underdiagnosis and undertreatment of FH.
- To outline current diagnostic criteria and therapeutic goals.
Main Methods:
- Selective literature search and review.
- Analysis of clinical diagnostic criteria including LDL cholesterol levels, family history, and xanthomas.
- Discussion of molecular genetic testing for definitive diagnosis.
Main Results:
- FH is frequently underdiagnosed and undertreated.
- Clinical diagnosis relies on high LDL cholesterol, family history, and early heart disease or xanthomas.
- Genetic testing confirms FH in 80% of cases, aiding family member identification.
- Treatment aims to reduce LDL cholesterol by ≥50% or <100 mg/dL using statins and lifestyle changes.
- Lipoprotein apheresis is reserved for severe cases.
Conclusions:
- Familial hypercholesterolemia is a common, reliably diagnosable condition.
- Simple clinical and molecular genetic tests facilitate diagnosis.
- Prompt diagnosis and treatment can normalize atherosclerosis risk in heterozygous FH patients.
Related Concept Videos
01:20Lipid-Lowering Drugs: Statins and Miscellaneous Agents
1.7K
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...
1.7K
01:29Cholesterol: Significance and Regulation
1.9K
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...
Considering cholesterol and...
1.9K
01:27Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
907
Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
907
01:26Atherosclerosis III: Management
701
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...
701
01:29Pharmacogenomics: Identification of New Drug Targets
119
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...
119
01:26Coronary Artery Disease IV: Preventive Measures
888
Effective preventive measures for coronary artery disease (CAD) focus on controlling modifiable risk factors, including cholesterol abnormalities and lifestyle changes.Cholesterol ManagementFirst, the Mediterranean diet and the American Heart Association advocate for maintaining low-density lipoprotein (LDL) cholesterol levels below 100 mg/dL, with a more stringent recommendation of below 70 mg/dL for individuals at high risk. LDL cholesterol, often termed "bad cholesterol," can lead to the...
888