Journal of clinical lipidology · 2026
Cardiovascular risk among individuals with and without a genetic mutation for familial hypercholesterolemia: A long-term study.
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Laursen Ramus, Holck Emil Nielsen, Kanstrup Helle Lynge, Mortensen Martin Bødtker
Аннотация
BACKGROUND: Patients with familial hypercholesterolemia (FH) are exposed to elevated low-density lipoprotein cholesterol (LDL-C) levels from early life. Whether FH independently increases risk of atherosclerotic cardiovascular disease (ASCVD) remains uncertain.
OBJECTIVE: To compare the risk of developing ASCVD between individuals with and without FH mutations across different levels of LDL-C.
METHODS: A registry-based cohort study including patients genetically tested for FH from 1991 to 2023. Exposure was genetic mutation in the LDL, APOB, or PCSK-9 genes within the different LDL groups: LDL-C <5 mmol/L, LDL-C 5 to 7 mmol/L, and LDL-C >7 mmol/L. ASCVD was defined as composite major adverse cardiac events (MACE) comprising myocardial infarction, cardiovascular death, angina pectoris, and stroke. An adjusted Cox proportional hazards model was used.
RESULTS: The study included 2327 patients, comprising 958 with FH mutation and 1369 without. Mean follow-up time was 13.9 ± 9.8 years. LDL-C was significantly associated with the risk of future ASCVD, with a multivariable-adjusted hazard ratio (HR) of 1.17 (95%CI: 1.13-1.22, P < .001) per 1 mmol/L increase in LDL-C. No significant difference in risk of MACE was found between those with vs without a genetic FH mutation (LDL-C <5 mmol/L HR 0.91 [95%CI: 0.48;1.74], LDL-C 5 to 7 mmol/L HR 0.91 [95%CI: 0.68;1.21] and LDL-C >7 mmol/L HR 1.13 [95%CI: 0.91;1.41]) using patients without FH as reference.
CONCLUSION: Genetic FH mutation did not confer additional risk when compared to individuals without an FH mutation but with similar LDL-C levels. These findings suggest that LDL-C levels - rather than FH mutation status - should guide the intensity of lipid-lowering therapy.
OBJECTIVE: To compare the risk of developing ASCVD between individuals with and without FH mutations across different levels of LDL-C.
METHODS: A registry-based cohort study including patients genetically tested for FH from 1991 to 2023. Exposure was genetic mutation in the LDL, APOB, or PCSK-9 genes within the different LDL groups: LDL-C <5 mmol/L, LDL-C 5 to 7 mmol/L, and LDL-C >7 mmol/L. ASCVD was defined as composite major adverse cardiac events (MACE) comprising myocardial infarction, cardiovascular death, angina pectoris, and stroke. An adjusted Cox proportional hazards model was used.
RESULTS: The study included 2327 patients, comprising 958 with FH mutation and 1369 without. Mean follow-up time was 13.9 ± 9.8 years. LDL-C was significantly associated with the risk of future ASCVD, with a multivariable-adjusted hazard ratio (HR) of 1.17 (95%CI: 1.13-1.22, P < .001) per 1 mmol/L increase in LDL-C. No significant difference in risk of MACE was found between those with vs without a genetic FH mutation (LDL-C <5 mmol/L HR 0.91 [95%CI: 0.48;1.74], LDL-C 5 to 7 mmol/L HR 0.91 [95%CI: 0.68;1.21] and LDL-C >7 mmol/L HR 1.13 [95%CI: 0.91;1.41]) using patients without FH as reference.
CONCLUSION: Genetic FH mutation did not confer additional risk when compared to individuals without an FH mutation but with similar LDL-C levels. These findings suggest that LDL-C levels - rather than FH mutation status - should guide the intensity of lipid-lowering therapy.