Homozygous familial hypercholesterolemia in China: Genetic and clinical characteristics from a real-world, multi-center, cohort study

Journal of Clinical Lipidology（2022）

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摘要

•Compound heterozygote is the most frequent type of HoFH in China.•The diagnosis and treatment of HoFH is delayed and uncontrolled.•HoFH patients often have structural cardiac abnormalities since early childhood.•True HoFH have worse survival rates compared to other genotype probands.

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关键词

Homozygous,Familial Hypercholesterolaemia,Phenotype,Diagnosis,Lipid-lowering Therapy

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