Related Experiment Video

Updated: Jul 14, 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

Identifying patients with familial hypercholesterolaemia in primary care: an informatics-based approach in one

J Gray1, A Jaiyeola, M Whiting

  • 1Wandsworth Primary Care Research Group, Bolingbroke Hospital, London, UK. jeremygray@nhs.net

Heart (British Cardiac Society)
|June 19, 2007
PubMed

Insights

Computer and medical record searches can identify undiagnosed familial hypercholesterolaemia (FH) cases in primary care. This approach can uncover new index cases for family screening programs, improving cardiovascular disease prevention.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Public Health

Background:

  • Familial hypercholesterolaemia (FH) is an autosomal dominant condition causing high LDL-cholesterol and early cardiovascular disease.
  • The UK lacks a national screening program, leaving most FH cases undiagnosed.
  • Identifying index cases is crucial for cascade screening of affected families.

Purpose of the Study:

  • To evaluate combined computer and notes-based searches for identifying FH index cases in primary care.
  • To determine the extent of overlap between primary and secondary care FH case identification.

Main Methods:

  • Conducted four computer searches in a South London general practice (12,100 patients).
  • Reviewed selected patient notes using a Dutch score for FH probability.
  • GP and consultant lipidologist assessed cases.

Main Results:

  • 3.3% of patients (402/12,100) required notes review.
  • Identified 12 definite and 8 probable FH cases, many previously unknown to primary or secondary care.
  • 54% of reviewed patients were possible FH cases, with 21.8% warranting further investigation.

Conclusions:

  • Primary care holds both diagnosed and undiagnosed FH cases not known to secondary care.
  • Computer-assisted searches effectively identify potential FH index cases.
  • Significant potential exists to initiate family cascade screening through primary care identification.
Abstract

Related Concept Videos

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...
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...
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)...
Primary Healthcare Services01:30

Primary Healthcare Services

Primary care promotes wellness and prevents disease. This care includes health promotion, education, protection (such as immunizations), early disease screening, and environmental considerations. Settings providing this type of healthcare include physician offices, public health clinics, school nursing, and community health nursing.
In 1978, international leaders convened in Alma-Ata, Kazakhstan, for what would be a pivotal event in global health. The Alma-Ata Declaration was the first to call...
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...
Coronary Artery Disease IV: Preventive Measures01:26

Coronary Artery Disease IV: Preventive Measures

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...