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Homozygous Familial Hypercholesterolemia (HoFH)

Cardiovascular risk in HoFH patients varies by sex and LDL-C levels

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In patients with homozygous familial hypercholesterolemia (HoFH), specific risk factors for atherosclerotic cardiovascular disease (ASCVD) differ by sex, according to a study that found that while elevated LDL-C levels significantly increase ASCVD risk in women, men face universally high ASCVD risk regardless of LDL-C levels by age 40.

A retrospective longitudinal study of 48 patients from the Canadian HoFH Registry identified key predictors of ASCVD. Over half of the participants (54%) experienced at least 1 ASCVD event. Independent predictors included male sex (HR 2.57), diabetes (HR 16.22), and elevated LDL-C levels above 14.45 mmol/L [559 mg/dL] (HR 3.10).

The analysis highlighted sex-specific differences. Among women, elevated LDL-C significantly increased ASCVD risk (88% vs 43%, P = 0.005), while in men, ASCVD risk was universally high regardless of LDL-C levels by age 40 (100%, P = 0.98).

Reference
Paquette M, Ruel I, Guay SP, et al. Extreme LDL-C concentration is associated with increased cardiovascular disease in women with homozygous familial hypercholesterolemia. J Clin Lipidol. 2024 Nov 6:S1933-2874(24)00269-1. doi: 10.1016/j.jacl.2024.10.008. Epub ahead of print. PMID: 39638644.

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