BetaEntity Annotation Prototype
← Back to drugs

Annotated abstract

22 Asymptomatic high risk coronary artery disease in familial hypercholesterolaemia: downstream management strategies and outcomes after cardiac CT

heartjnl · 2026-06-24 · canonical JSON source

5 visible annotations · policy: published · automated confidence ≥ 75.00%

Document resource

Introduction Familial hypercholesterolaemia (FH) affects 1:300 individuals and confers increased lifetime cardiovascular risk. Cardiac CT (CCT) detects subclinical coronary artery disease (CAD), enabling timely lipid therapy intensification. However, optimal downstream management of asymptomatic patients with high CAD burden remains unclear, with approaches ranging from symptom or functional test driven revascularisation to early invasive assessment.Aim To evaluate downstream investigation strategies and their influence on revascularisation and clinical outcomes in FH patients with subclinical high-risk CAD.Methods We retrospectively identified 50 patients with definite or possible FH (64% genetically confirmed) and high-risk CCT features (calcium score >400 AU, left main, proximal LAD, or three-vessel disease) from 2441 lipid clinic CCT referrals (2012–2024). Patients were categorised by initial strategy: no further testing (n=13), functional testing (n=34), or direct angiography (n=3) (table 1, figure 1).Outcomes 17/50 (34%) underwent invasive angiography and 9/50 (18%) revascularisation (5 PCI, 4 CABG) over a median 8.5-year follow-up. No non-fatal MIs occurred; 1 fatal MI, 1 fatal intracranial bleed on aspirin, 4 non-cardiac/undocumented deaths. Figures below illustrate angiography and revascularisation rates by initial strategy, symptom development, and functional test results (figure 2).Conclusions In asymptomatic FH patients with severe CAD on CCT, angina onset was the primary driver of revascularisation (PPV 83.3%), not functional testing. MPS was a poor predictor of revascularisation. Stress echo had excellent PPV and NPV but numbers were small. Calcium score did not correlate with revascularisation (p=0.92). Symptom-guided management may be safe in the majority, but individualised care is vital to identify those who may benefit from early revascularisation. Larger prospective studies are needed to define the role, if any, of functional testing. A 48-year-old asymptomatic man with genetically confirmed heterozygous familial hypercholesterolaemia is referred for cardiac CT as part of risk stratification from a specialist lipid clinic. He is on high-intensity statin therapy and ezetimibe, with an LDL-C of 3.6 mmol/L. CT coronary angiography demonstrates a calcium score of 680 AU and severe proximal LAD disease, with no symptoms on direct questioning. Based on the best available evidence, which of the following is the most appropriate next step?A. Proceed directly to invasive coronary angiography with a view to revascularisationB. Arrange functional testing and revascularise if ischaemia is demonstratedC. Intensify lipid-lowering therapy (e.g. add PCSK9 inhibitor) with careful surveillance for any onset of symptomsD. Repeat cardiac CT in 12 months to assess calcium score progression and use this to guide revascularisationE. Continue current treatment and reassure.Abstract 22 Table 1DemographicsAbstract 22 Figure 2Angiography and revascularisation rates by test result PPV and NPV for revascularisationAbstract 22 Figure 1Angiography and revascularisation rates by initial testing strategyAnswer: C