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Opportunistic Genetic Testing for Familial Hypercholesterolemia in Premature Acute Coronary Syndrome: Results of the
Nicol Vaizman1, Lubomira Cermakova2, Matthew Cooper3
1Centre for Heart Lung Innovation, University of British Columbia and St. Paul's Hospital, Vancouver, British Columbia, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Insights
Opportunistic genetic testing for Familial Hypercholesterolemia (FH) in patients with premature Acute Coronary Syndrome (ACS) significantly increased FH diagnosis rates. This led to more intensive lipid-lowering treatment and better achievement of cholesterol targets.
Area of Science:
- Cardiology
- Genetics
- Preventive Medicine
Background:
- Familial Hypercholesterolemia (FH) is a prevalent genetic disorder often associated with premature Acute Coronary Syndrome (ACS).
- Despite its prevalence, FH remains significantly underdiagnosed and undertreated in patients experiencing early cardiovascular events.
Purpose of the Study:
- To evaluate the effectiveness of opportunistic genetic testing in diagnosing FH among patients presenting with premature ACS.
- To assess the impact of genetic testing on the utilization of lipid-lowering therapies and achievement of lipid goals in this high-risk population.
Main Methods:
- The ACCURATE study was a prospective, nonrandomized trial involving two sequential cohorts of patients under 60 years old admitted with ACS and elevated LDL-C.
- Phase 1 involved standard care without genetic testing, while Phase 2 incorporated FH genetic testing with results provided to physicians.
- The primary endpoint was the diagnosis of definite FH at 15 months post-ACS, with secondary endpoints including changes in lipid-lowering therapy and lipid levels.
Main Results:
- A definite FH diagnosis was established in 10% of patients in the genetic testing group (Phase 2) compared to 0% in the standard care group (Phase 1).
- Patients in Phase 2 were more likely to achieve LDL-C targets (<1.8 mmol/L), with 73% reaching the goal versus 53% in Phase 1.
- The genetic testing group showed significantly improved lipid profiles and higher rates of statin or statin-ezetimibe combination therapy use at 15 months.
Conclusions:
- Opportunistic genetic testing in young adults with ACS effectively increases the diagnosis rate of Familial Hypercholesterolemia.
- Implementing genetic testing is associated with more aggressive lipid-lowering treatment strategies and improved attainment of therapeutic lipid targets.
- This approach holds promise for enhancing cardiovascular care and secondary prevention in patients with premature atherosclerotic disease.
Background:
Familial hypercholesterolemia (FH) is common among patients with premature acute coronary syndrome (ACS) but remains underdiagnosed and undertreated.
Objectives:
The ACCURATE (Advancing Cardiac Care Unit-based Rapid Assessment and Treatment of hypErcholesterolemia) study evaluated whether opportunistic genetic testing in patients with premature ACS increases FH diagnosis and lipid-lowering therapy use.
Methods:
ACCURATE was a nonrandomized, prospective study that recruited 2 sequential cohorts of patients. In phase 1, patients were treated according to usual standard of care, with no genetic testing. In phase 2, patients underwent FH genetic testing with results returned to treating physicians. Eligible patients were <60 years old admitted with ACS and had low-density lipoprotein cholesterol (LDL-C) ≥4 mmol/L (≥155 mg/dL). The primary endpoint was a new diagnosis of definite FH at 15 months post-ACS. Secondary endpoints were changes in lipid-lowering therapy and lipid levels.
Results:
Overall, 40 patients in phase 1 and 100 patients in phase 2 completed the study, with similar baseline characteristics. A diagnosis of definite FH at follow-up occurred in 10% of patients in phase 2 vs 0% in phase 1. At 15 months, patients in phase 2 were more likely to achieve an LDL-C <1.8 mmol/L (73% vs 53%, P = 0.04), had lower mean LDL-C (1.65 mmol/L vs 1.93 mmol/L [64 mg/dL vs 75 mg/dL]) (P = 0.03), and were more likely to be receiving statin therapy (95% vs 83%, P = 0.04) or statin-ezetimibe combination therapy (52% vs 30%, P = 0.02).
Conclusions:
Opportunistic genetic testing of young adults with ACS was associated with increased FH diagnosis, more intensive lipid-lowering treatment, and improved lipid target attainment. (Advancing Cardiac Care Unit-based Rapid Assessment and Treatment of hypErcholesterolemia [ACCURATE]; NCT05218005).
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