Sabatel-Pérez Fernando, Sánchez-Prieto Joaquín, Becerra-Muñoz Víctor Manuel, Alonso-Briales Juan Horacio, Mata Pedro, Rodríguez-Padial Luis
Department of Cardiology, Complejo Hospitalario Universitario de Toledo, 45004 Toledo, Spain.
Unidad de Gestión Clínica Área del Corazón, Instituto de Investigación Biomédica de Málaga (IBIMA), Hospital Universitario Virgen de la Victoria de Málaga, Universidad de Málaga (UMA), Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), 29010 Málaga, Spain.
J Clin Med. 2021 Feb 13;10(4):749. doi: 10.3390/jcm10040749.
The majority of familial hypercholesterolemia index cases (FH-IC) remain underdiagnosed and undertreated because there are no well-defined strategies for the universal detection of FH. The aim of this study was to evaluate the diagnostic yield of an active screening for FH-IC based on centralized analytical data. From 2016 to 2019, a clinical screening of FH was performed on 469 subjects with severe hypercholesterolemia (low-density lipoprotein cholesterol ≥220 mg/dL), applying the Dutch Lipid Clinic Network (DLCN) criteria. All patients with a DLCN ≥ 6 were genetically tested, as were 10 patients with a DLCN of 3-5 points to compare the diagnostic yield between the two groups. FH was genetically confirmed in 57 of the 84 patients with DLCN ≥ 6, with a genetic diagnosis rate of 67.9% and an overall prevalence of 12.2% (95% confidence interval: 9.3% to 15.5%). Before inclusion in the study, only 36.8% ( = 21) of the patients with the FH mutation had been clinically diagnosed with FH; after genetic screening, FH detection increased 2.3-fold ( < 0.001). The sequential, active screening strategy for FH-IC increases the diagnostic yield for FH with a rational use of the available resources, which may facilitate the implementation of FH universal and family-based cascade screening strategies.
大多数家族性高胆固醇血症索引病例（FH-IC）仍未得到充分诊断和治疗，因为目前尚无用于普遍检测FH的明确策略。本研究的目的是基于集中分析数据评估对FH-IC进行主动筛查的诊断率。2016年至2019年，对469例严重高胆固醇血症（低密度脂蛋白胆固醇≥220mg/dL）患者进行了FH临床筛查，采用荷兰脂质诊所网络（DLCN）标准。所有DLCN≥6的患者均进行了基因检测，10例DLCN为3-5分的患者也进行了基因检测，以比较两组之间的诊断率。84例DLCN≥6的患者中有57例经基因确诊为FH，基因诊断率为67.9%，总体患病率为12.2%（95%置信区间：9.3%至15.5%）。在纳入本研究之前，FH突变患者中只有36.8%（=21例）在临床上被诊断为FH；经过基因筛查后，FH的检测率提高了2.3倍（P<0.001）。针对FH-IC的序贯、主动筛查策略通过合理利用现有资源提高了FH的诊断率，这可能有助于实施FH的普遍和基于家庭的级联筛查策略。
