Key result
Familial hypercholesterolemia linked to ~4-fold higher risk of abdominal aortic aneurysm.
Why the study?
Is primary hypercholesterolemia, including familial hypercholesterolemia, associated with an increased risk of aortic aneurysms in the general population?
Observational (n=8,995,522)
Yes
Is primary hypercholesterolemia, including familial hypercholesterolemia, associated with an increased risk of aortic aneurysms in the general population?
Odds Ratio: 4.25 (95% CI 2.33–7.44)
Absolute Event Rate: 0.45% vs 0.09%
p-value: p=<0.001
Primary hypercholesterolemia and familial hypercholesterolemia are significantly associated with an increased risk of abdominal aortic aneurysms in the general population.
Introduction: Patients with primary hypercholesterolemia (PH), including familial hypercholesterolemia (FH), are at elevated risk for cardiovascular disease. However, the associations between PH, FH, and aortic aneurysm, a life-threatening condition, remain unclear. This study aimed to investigate these associations in a general population using the Japanese National Database. Methods: We reviewed the data of 8,995,522 individuals aged 40–74 years who underwent annual health checkups. PH, including heterozygous/homozygous (definite FH) and non-classified FH (probable FH), chest aortic aneurysm (CAA), and abdominal aortic aneurysm (AAA), were determined based on medical insurance claim codes. Results: The prevalence of PH, including definite (n = 436) and probable FH (n = 2,857), was 0.18% (n = 16,338) in total. CAA and AAA accounted for 0.16% (n = 26) and 0.45% (n = 73) in PH patients, and 0.05% and 0.09% in non-PH patients, respectively. Among PH, non-FH, including familial-combined hyperlipidemia, and definite/probable FH were significantly associated with AAA even after adjusting for confounders, including pharmacotherapies for hypertension, diabetes, and dyslipidemia [ORs and 95% CIs, 1.96 (1.53-2.53) and 4.25 (2.33-7.44), both p < 0.001]. Discussion: This study explored significant associations between PH, FH, and aortic aneurysms, specifically AAA, all of them were rare in the general population, which was barely disclosed using the data of 9 million people who underwent regular checkup. Conclusion: PH and FH were associated with aortic aneurysms, particularly AAA, even in the research of the general population.
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Nakajima et al. (2026) conducted an observational in Primary hypercholesterolemia and aortic aneurysm (n=8,995,522). Primary hypercholesterolemia (including familial hypercholesterolemia) vs. Non-primary hypercholesterolemia was evaluated on Abdominal aortic aneurysm (AAA) (OR 4.25, 95% CI 2.33-7.44, p=<0.001). Definite or probable familial hypercholesterolemia was significantly associated with an increased risk of abdominal aortic aneurysm (OR 4.25; 95% CI 2.33-7.44; p<0.001).
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