Comparing the performance of the novel FAMCAT algorithms and established case-finding criteria for familial hypercholesterolaemia in primary care

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 detec...

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Bibliographic Details
Published in:Open heart 2021-10, Vol.8 (2), p.e001752
Main Authors: Qureshi, Nadeem, Akyea, Ralph K, Dutton, Brittany, Leonardi-Bee, Jo, Humphries, Steve E, Weng, Stephen, Kai, Joe
Format: Article
Language:English
Subjects:
Aged
Algorithms
Cardiac Risk Factors and Prevention
Cardiovascular disease
Cholesterol
Cholesterol, LDL - blood
Cholesterol, LDL - genetics
Clinical medicine
delivery of health care
Diabetes
Electronic health records
Family medical history
Female
Genetic testing
Genetic Testing - methods
Humans
hyperlipidemias
Hyperlipoproteinemia Type II - diagnosis
Hyperlipoproteinemia Type II - epidemiology
Hyperlipoproteinemia Type II - genetics
Incidence
Kidney diseases
Laboratories
Lipids
Low density lipoprotein
Male
Middle Aged
Patients
Population
Primary care
Primary Health Care - statistics & numerical data
Prospective Studies
Risk Factors
Triglycerides
United Kingdom - epidemiology
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Summary: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
ISSN:2053-3624
2398-595X
2053-3624
DOI:10.1136/openhrt-2021-001752