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Diagnostic scoring for familial hypercholesterolaemia in practice
Kate Haralambos1, Pauline Ashfield-Watt, Ian F W McDowell
1aCardiff UniversitybCardiff and Vale University Health Board, Cardiff, UK.
Current Opinion in Lipidology
|July 9, 2016
Summary
Diagnostic scoring systems help identify familial hypercholesterolaemia (FH) for screening or genetic testing. Current criteria vary in predictive value, necessitating further refinement for optimal patient selection.
Area of Science:
- Cardiovascular Medicine
- Clinical Genetics
- Biochemistry
Background:
- Familial hypercholesterolaemia (FH) is a genetic disorder leading to high cholesterol levels.
- Early diagnosis and treatment are crucial to prevent cardiovascular disease.
- Diagnostic scoring systems aid in identifying individuals with potential FH.
Purpose of the Study:
- To review existing diagnostic scoring criteria for familial hypercholesterolaemia (FH).
- To discuss the utility of these criteria in screening and guiding genetic testing.
- To explore future directions for refining FH diagnostic tools.
Main Methods:
- Systematic review of published diagnostic criteria for FH.
- Analysis of scoring systems based on lipid values, clinical signs, and cardiovascular history.
- Evaluation of predictive value across different populations and genetic variants.
Main Results:
- International scoring systems exist, utilizing lipid profiles and clinical data.
- Predictive accuracy of criteria differs based on population (lipid clinics, general population, FH relatives).
- Genetic heterogeneity of FH impacts the effectiveness of current scoring systems.
Conclusions:
- Clinical scoring systems are increasingly used for FH genetic testing selection.
- No single scoring system is universally adopted.
- Refined, sophisticated calculators and digital tools are emerging to improve FH diagnosis.
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