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Homozygous Familial Hypercholesterolemia (HoFH)

Gender not a deciding factor in HoFH treatment, but cardiovascular risk differs

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Despite similarities in lipid levels and treatment approaches between male and female patients with homozygous familial hypercholesterolemia (HoFH), there may be differences in the age at diagnosis and the occurrence of major adverse cardiovascular events (MACE), according to a study that suggests HoFH may offset the traditionally lower cardiovascular risk observed in pre-menopausal females.

The study, conducted using data from the Canadian HoFH registry, aimed to analyze clinical characteristics, lipid-lowering therapy (LLT), and cardiovascular events among HoFH patients, with a focus on potential differences between males and females.

The study included 48 patients, of whom 27 (56%) were female. Findings revealed that while baseline clinical characteristics and lipid levels were comparable between the sexes, there were notable differences in the median age at diagnosis. Females were diagnosed at a median age of 14.0 years, compared to 8.0 years for males.

Regarding treatment, most patients were found to be taking ≥3 o LLTs, with similar proportions observed between males and females. Additionally, the use of apheresis, a procedure to remove cholesterol from the blood, was comparable between the sexes.

Over a mean follow-up period of 10 years, MACE, including cardiovascular death, non-fatal myocardial infarction, and stroke, occurred in 11.1% of females and 19.1% of males. However, statistical analysis did not show significant differences in MACE occurrence between the sexes.

Reference

Al-Baldawi Z, Brown L, Ruel I, et al. Sex differences in the presentation, treatment and outcomes of patients with homozygous familial hypercholesterolemia. J Clin Lipidol. 2024;S1933-2874(24)00003-5. doi: 10.1016/j.jacl.2024.01.003. Epub ahead of print. PMID: 38281851.

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