Clinical and genetic diagnosis of familial hypercholesterolaemia in patients undergoing coronary angiography: the Ludwigshafen Risk and Cardiovascular Health Study
Authors' conclusion
FH is up to four-fold more prevalent in patients undergoing coronary angiography than in contemporary cohorts representing the general population. Different clinical criteria yield substantially different diagnosis rates, overestimating the prevalence of FH compared with genetic testing.
Study context
- Population
- Patients undergoing coronary angiography (78.6% with coronary artery disease (CAD))
- Participants
- 3,267 patients
- Exposure
- Clinical criteria vs genetic testing for familial hypercholesterolaemia (FH)
- Outcome
- Prevalence of FH and performance of clinical criteria vs genetic testing
Main finding
As reported in the abstract
FH prevalence
| Group | Value | CAD | No CAD |
|---|---|---|---|
| Dutch Lipid Clinical Network (DLCN) | 2.8% | ||
| US 'Make Early Diagnosis to Prevent Early Death (US-MEDPED) | 2.2% | ||
| Simon Broome (SB) | 3.9% | ||
| FAMCAT | 7.9% | ||
| Pathogenic FH mutations | 1.2% | 1.2% | 1.0% |
Value
Dutch Lipid Clinical Network (DLCN)2.8%
US 'Make Early Diagnosis to Prevent Early Death (US-MEDPED)2.2%
Simon Broome (SB)3.9%
FAMCAT7.9%
Pathogenic FH mutations1.2%
CAD
Dutch Lipid Clinical Network (DLCN)Not reported in the abstract
US 'Make Early Diagnosis to Prevent Early Death (US-MEDPED)Not reported in the abstract
Simon Broome (SB)Not reported in the abstract
FAMCATNot reported in the abstract
Pathogenic FH mutations1.2%
No CAD
Dutch Lipid Clinical Network (DLCN)Not reported in the abstract
US 'Make Early Diagnosis to Prevent Early Death (US-MEDPED)Not reported in the abstract
Simon Broome (SB)Not reported in the abstract
FAMCATNot reported in the abstract
Pathogenic FH mutations1.0%
Observational data: associations, not effects.
Further findings
FH by age
- FH more frequently diagnosed in younger patients
Original publication
Clinical and genetic diagnosis of familial hypercholesterolaemia in patients undergoing coronary angiography: the Ludwigshafen Risk and Cardiovascular Health Study. Eur Heart J Qual Care Clin Outcomes. Published 9 January 2024. doi:10.
Summarised from the published abstract; every number is checked against it