Related Experiment Video

Updated: Oct 26, 2025

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

8.3K

Familial hypercholesterolemia in Southeast and East Asia

Candace L Jackson1, Magdi Zordok2, Iftikhar J Kullo2

  • 1Department of Medicine, Mayo Clinic, Rochester, MN USA.

American Journal of Preventive Cardiology
|July 30, 2021
PubMed

Insights

Familial hypercholesterolemia (FH) is a common genetic disorder increasing heart disease risk. This review highlights FH knowledge gaps in East and Southeast Asia, emphasizing improved diagnosis and management to reduce premature coronary heart disease.

Area of Science:

  • Cardiovascular Genetics
  • Metabolic Disorders
  • Public Health Genomics

Background:

  • Familial hypercholesterolemia (FH) is an autosomal dominant disorder significantly elevating coronary heart disease (CHD) risk.
  • Pathogenic variants in *LDLR*, *APOB*, and *PCSK9* genes are primary causes, with geographic variations in prevalence.
  • Significant knowledge gaps exist regarding FH epidemiology in Southeast and East Asia due to low awareness and limited genetic testing.

Purpose of the Study:

  • To review current information on diagnostic criteria, prevalence, awareness, clinical characteristics, genetic epidemiology, and treatment of FH in Southeast and East Asia.
  • To address the substantial gaps in understanding FH within these specific regions.
  • To underscore the need for enhanced FH diagnosis and management strategies.

Main Methods:

  • Comprehensive literature review of recent studies on FH in Southeast and East Asia.
  • Analysis of available data on diagnostic criteria, prevalence, and genetic variants.
  • Synthesis of information on clinical characteristics, awareness levels, and treatment approaches.

Main Results:

  • FH is a prevalent condition in East and Southeast Asia, yet awareness and diagnosis rates remain low.
  • Genetic epidemiology reveals varying frequencies of *LDLR*, *APOB*, and *PCSK9* variants across the region.
  • Substantial disparities exist in screening programs and genetic testing availability.

Conclusions:

  • Improving FH awareness, diagnosis, and management is crucial for reducing the burden of premature CHD in East and Southeast Asia.
  • Targeted screening programs and accessible genetic testing are essential for effective FH control.
  • Further research is needed to fully elucidate the FH landscape in these regions.

Keywords:
AwarenessCoronary heart diseaseDiagnostic criteriaEast AsiaFamilial hypercholesterolemiaGenetic testingPrevalenceSoutheast Asia

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

13.7K
Isolation and Analysis of Plasma Lipoproteins by Ultracentrifugation06:47

Isolation and Analysis of Plasma Lipoproteins by Ultracentrifugation

Published on: January 28, 2021

11.8K

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...
827
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.
Serum lipids are fats and fatty substances in the blood and are crucial for various bodily functions, including energy storage, cellular structure, and hormone production. Serum lipids consist of cholesterol, triglycerides, and phospholipids.
Cholesterol is a soft, fat-like substance found in all body cells. It is crucial for producing hormones, vitamin D, and substances that aid...
361
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...
1.3K
Atherosclerosis I: Introduction01:30

Atherosclerosis I: Introduction

Atherosclerosis is a progressive disorder characterized by the buildup of plaques on the arterial inner wall, causing them to narrow and harden over time. These plaques comprise lipids, calcium, blood components, carbohydrates, and fibrous tissue. The process primarily affects the intima of large and medium-sized arteries, reducing blood flow in any artery.Etiology and risk factorsThe cause of atherosclerosis is multifactorial, involving a complex interplay among endothelial injury, lipid...
260
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests01:27

Atherosclerosis II: Clinical Manifestations and Diagnostic Tests

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)...
112
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...
80