Key result
Homozygous FH drives far worse cardiovascular risk than heterozygous disease, requiring intensive multi-target therapy.
Why the study?
What are the differences in clinical characterization, therapeutic strategies and cardiovascular outcomes between Homozygous and Heterozygous Familial Hypercholesterolemia?
What are the differences in clinical characterization, therapeutic strategies and cardiovascular outcomes between Homozygous and Heterozygous Familial Hypercholesterolemia?
This study reviews the differences in clinical characteristics, treatments, and outcomes between homozygous and heterozygous familial hypercholesterolemia.
Aims: Homozygous Familial hypercholesterolemia (HoFH) is a rare genetic disease characterized by very high levels of low-density lipoprotein cholesterol (LDL-C). Owing to LDL receptor activity being completely or nearly all lost in HoFH, LDL-C levels greatly exceed normal levels, and are even higher than in heterozygous (HeFH), which can cause fatal cardiovascular disease even in infancy. The current study updates differences in clinical characterization, therapeutic strategies and cardiovascular outcomes between HoFH and HeFH.
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Shishikura et al. (2026) conducted a review in Homozygous and Heterozygous Familial Hypercholesterolemia. Homozygous Familial Hypercholesterolemia (HoFH) vs. Heterozygous Familial Hypercholesterolemia (HeFH) was evaluated on Clinical characterization, therapeutic strategies and cardiovascular outcomes. Homozygous familial hypercholesterolemia was compared to heterozygous familial hypercholesterolemia regarding clinical characterization, therapeutic strategies, and cardiovascular outcomes.
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