ArticleOpen heart2021
Comparing the performance of the novel FAMCAT algorithms and established case-finding criteria for familial hypercholesterolaemia in primary care.
Article in Open heart, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03934320 (Improving Identification of Familial Hypercholesterolaemia in Primary Care Using a New Case Ascertainment Tool), which is not on this map. Cited by 10 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Improving Identification of Familial Hypercholesterolaemia in Primary Care Using a New Case Ascertainment Tool (FAMCAT)
Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- Improving the clinical diagnosis of familial hypercholesterolemia among patients attending diabetes and cardiology clinics.American journal of preventive cardiology · 2026Article
- Electronic health records-based algorithms to screen for U.S. Centers for Disease Control and Prevention tier 1 genetic diseases: a scoping review.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- Risk factors for long-term cardiovascular post-acute sequelae of COVID-19 infection: A nested case-control study in Hong Kong.NPJ cardiovascular health · 2024Article
- Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening.Journal of the American Heart Association · 2023Article
- Reducing Premature Coronary Artery Disease in Malaysia by Early Identification of Familial Hypercholesterolemia Using the Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT): Protocol for a Mixed Methods Evaluation Study.JMIR research protocols · 2023Article
- A comparison of the Netherlands, Norway and UK familial hypercholesterolemia screening programmes with implications for target setting and the UK's NHS long term plan.PLOS global public health · 2023Article
- Electronic health record-based facilitation of familial hypercholesterolaemia detection sensitivity of different algorithms in genetically confirmed patients.European heart journal. Digital health · 2022Article
- Leveraging Healthcare System Data to Identify High-Risk Dyslipidemia Patients.Current cardiology reports · 2022Review
- Cost-Effectiveness of Screening Algorithms for Familial Hypercholesterolaemia in Primary Care.Journal of personalized medicine · 2022Article
- A mixed methods study of the awareness and management of familial hypercholesterolaemia in Irish general practice.Frontiers in medicine · 2022Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveFamilial hypercholesterolaemia (FH) is a common inherited disorder causing premature coronary heart disease (CHD) and death. We have developed the novel Familial Hypercholesterolaemia Case Ascertainment Tool (FAMCAT 1) case-finding algorithm for application in primary care, to improve detection of FH. The performance of this algorithm was further improved by including personal history of premature CHD (FAMCAT 2 algorithm). This study has evaluated their performance, at 95% specificity, to detect genetically confirmed FH in the general population. We also compared these algorithms to established clinical case-finding criteria.
methodsProspective validation study, in 14 general practices, recruiting participants from the general adult population with cholesterol documented. For 260 participants with available health records, we determined possible FH cases based on FAMCAT thresholds, Dutch Lipid Clinic Network (DLCN) score, Simon-Broome criteria and recommended cholesterol thresholds (total cholesterol >9.0 mmol/L if ≥30 years or >7.5 mmol/L if <30 years), using clinical data from electronic and manual extraction of patient records and family history questionnaires. The reference standard was genetic testing. We examined detection rate (DR), sensitivity and specificity for each case-finding criteria.
resultsAt 95% specificity, FAMCAT 1 had a DR of 27.8% (95% CI 12.5% to 50.9%) with sensitivity of 31.2% (95% CI 11.0% to 58.7%); while FAMCAT 2 had a DR of 45.8% (95% CI 27.9% to 64.9%) with sensitivity of 68.8% (95% CI 41.3% to 89.0%). DLCN score ≥6 points yielded a DR of 35.3% (95% CI 17.3% to 58.7%) and sensitivity of 37.5% (95% CI 15.2% to 64.6%). Using recommended cholesterol thresholds resulted in DR of 28.0% (95% CI 14.3% to 47.6%) with sensitivity of 43.8% (95% CI 19.8% to 70.1%). Simon-Broome criteria had lower DR 11.3% (95% CI 6.0% to 20.0%) and specificity 70.9% (95% CI 64.8% to 76.5%) but higher sensitivity of 56.3% (95% CI 29.9% to 80.2%).
conclusionsIn primary care, in patients with cholesterol documented, FAMCAT 2 performs better than other case-finding criteria for detecting genetically confirmed FH, with no prior clinical review required for case finding. TRIAL REGISTRATION NUMBER: NCT03934320.
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