Triple assessments of atherosclerosis in patients with heterozygous familial hypercholesterolemia

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Abstract Background Data on the appropriate timing and impact of atherosclerosis assessment in patients with heterozygous familial hypercholesterolemia (HeFH) are limited. We aimed to determine when atherosclerotic changes occur and the utility of triple assessments of carotid plaque, coronary plaque, and coronary artery calcium (CAC) in patients with HeFH. Methods Data from patients with HeFH in the primary prevention setting admitted to a university hospital between 2000 and 2020 who underwent triple atherosclerosis assessment using carotid ultrasound and coronary computed tomography (CT) and were followed up were retrospectively reviewed (n = 622, male = 306, mean age = 54 years). Carotid plaque, coronary plaque, and CAC scores were plotted against age in males and females. We performed log-rank tests to compare cardiovascular events-free survival among different strata of the atherosclerosis group. Results Regression equations of carotid plaque, coronary plaque, and CAC scores were Y = 0.12X–2.07 (r = 0.35, p < 0.001), Y = 0.36X–9.30 (r = 0.37, p < 0.001), and Y = 2.48X–77.23 (r = 0.34, p < 0.001) in males and Y = 0.12X–3.60 (r = 0.42, p < 0.001), Y = 0.33X–11.75 (r = 0.41, p < 0.001), and Y = 2.23X–89.47 (r = 0.39, p < 0.001) in females, respectively. Significant differences were observed among the groups according to atherosclerotic burden. Conclusion On average, carotid plaque, coronary plaque, and CAC may develop at ages 17, 26, and 31 in male patients and 30, 36, and 40 in female patients with HeFH, respectively. Furthermore, triple assessments help in risk stratification.

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