《纯合子家族性高胆固醇血症早期筛查与管理中国专家共识（2024年）》要点解读

打开文本图片集

【中图分类号】R589.2【文献标识码】A DOI：10.12114/j.issn.1007-9572.2025.0074

【Abstract】Familial hypercholesterolemia（FH） is a severe inherited metabolic disorder.Early diagnosis and earlytreatmentcan greatlyimprovetheprognosisofpatients，buttherecognitionand managementof homozygous familial hypercholesterolemia（HoFH）remainseverelyinadequate globall.Inrecentyears，anumberof international guidelinesand expert consensusdocuments onFHhavebeenisued，but there arerelativelyfew expert consensuses specificallon HoFH. Recently，the Chinese SocietyofLaboratory Medicineandamultidisciplinary expertpanelhavedevelopedand published the ChineseExpertConsensusonEarlyScreningandManagementofHomozygousFamilial Hypercholesterolemia（2O24），which clarifiesthearlyidentificationanddiagnosisprocssofHoFHandupdatesandoptimizesthetherapeuticprotocols.Thisarticle providesadetailedinterpretationofthefivekeypointsof thisconsensusbasedonour team'sHoFHfamilyscreningpractice， including：（1）IntroducingartificialintellgenceformultidimensionaloptimizationofHoFHearlyscreeningstrategies；（2）RefiningclinicaldiagnosticcriteriaforHoFHandemphasizing theimportanceof genediagnosiscollaboration；（3）Highlighting thesignificanceof prenataldiagnosisandnewbornscrening；（4）Focusingonthediferentialdiagnosisbetweensterolemiaand HoFH；（5）Updatingandoptimizing HFH treatment strategies with stratifiedlow-density lipoprotein cholesteroltreatment target values.Additionaly，combining HoFHscreening practices，this article proposesdriving clinical practiceand focusing on long-term HoFHmanagement，aiming toprovidereferencesforearlyscreeningandclinical managementof HoFHin China.

【Key Words】Homozygous familial hypercholesterolemia； Early screening；Diagnosis；Management；Expert consensus；Interpretation

家族性高胆固醇血症（familialhypercholesterolemia，FH）是严重的常染色体显性遗传性疾病，主要特征是血清低密度脂蛋白胆固醇（lowdensitylipoproteincholesterol，LDL-C）水平大幅升高，皮肤和/或关节肌腱部位黄色瘤，及过早发生动脉粥样硬化性心血管疾病（atherosclerotic cardiovasculardisease，ASCVD）风险极高。（剩余14732字）