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Homozygous Familial Hypercholesterolemia (HoFH)

Lipid-lowering therapies show promising results for patients with HoFH in real-world setting

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The availability and utilization of novel lipid-lowering therapies (LLTs) have led to significant advancements in the clinical management of homozygous familial hypercholesterolaemia (HoFH), according to a study. The study highlights that through a combination of conventional and cutting-edge LLTs, LDL-C control has greatly improved, resulting in a marked reduction in major cardiovascular events among patients with HoFH.

The study retrospectively analyzed the clinical characteristics of 139 patients with HoFH. It also tracked information regarding LLTs and low-density lipoprotein cholesterol (LDL-C) levels at baseline and after a median follow-up of 5 years.

At the outset, patients exhibited an average LDL-C level of 332 ± 138 mg/dL. Over the follow-up period, the potency of LLTs was significantly enhanced, with 15.8% of patients ultimately receiving quadruple therapy. This intensified treatment regimen corresponded with a reduction in LDL-C levels to an average of 124 mg/dL—a 58.3% decrease. LDL-C levels as low as approximately 90 mg/dL were achieved in patients treated with proprotein convertase subtilisin/kexin type 9 inhibitors and adjunctive therapies such as lomitapide and/or evinacumab.

The study also examined the impact on cardiovascular health, finding a significantly lower average annual rate of major atherosclerotic cardiovascular events (MACE-plus) during the 5-year follow-up compared to the preceding 5 years before baseline (21.7 vs 56.5 per 1000 patients/year; P = 0.0016).

Reference
D’Erasmo L, Bini S, Casula M, et al; LIPIGEN HoFH group. Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry. Eur J Prev Cardiol. 2024;zwae036. doi: 10.1093/eurjpc/zwae036. Epub ahead of print. PMID: 38374534.

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