PDF(Pubmed)
Abstract：
OBJECTIVE: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels, which increases the risk of premature coronary artery disease. Early detection and treatment are vital, especially in children. To improve FH diagnosis in children, the Japan Atherosclerosis Society (JAS) released new guidelines in July 2022. This study assessed and compared the sensitivity and specificity of the clinical diagnostic criteria from the JAS pediatric FH guidelines of 2017 and 2022.
METHODS: From September 2020 to March 2023, 69 children with elevated plasma LDL-C levels (≥ 140 mg/dL) were included in a pediatric FH screening project in Kagawa. The children were evaluated using genetic testing alongside the clinical diagnostic criteria from the JAS pediatric FH guidelines of 2017 and 2022.
RESULTS: Using the JAS pediatric FH 2017 criteria, eight children were diagnosed as FH-positive and 61 children as FH-negative. The JAS pediatric FH 2022 criteria identified 15 children with definite FH, 31 with probable FH, and 23 with possible FH. Genetic testing detected FH pathogenic variants in 24 children. The sensitivity and specificity for the JAS pediatric FH 2017 criteria were 0.292 and 0.978, respectively. For the JAS pediatric FH 2022 criteria, the sensitivity was 0.542 for definite FH with a specificity of 0.956, and 0.917 for probable FH with a specificity of 0.467.
CONCLUSIONS: The clinical diagnostic criteria of the JAS pediatric FH 2022 guidelines demonstrated improved diagnostic efficiency compared with those of 2017, as evidenced by the increased sensitivity while preserving specificity.
METHODS: From September 2020 to March 2023, 69 children with elevated plasma LDL-C levels (≥ 140 mg/dL) were included in a pediatric FH screening project in Kagawa. The children were evaluated using genetic testing alongside the clinical diagnostic criteria from the JAS pediatric FH guidelines of 2017 and 2022.
RESULTS: Using the JAS pediatric FH 2017 criteria, eight children were diagnosed as FH-positive and 61 children as FH-negative. The JAS pediatric FH 2022 criteria identified 15 children with definite FH, 31 with probable FH, and 23 with possible FH. Genetic testing detected FH pathogenic variants in 24 children. The sensitivity and specificity for the JAS pediatric FH 2017 criteria were 0.292 and 0.978, respectively. For the JAS pediatric FH 2022 criteria, the sensitivity was 0.542 for definite FH with a specificity of 0.956, and 0.917 for probable FH with a specificity of 0.467.
CONCLUSIONS: The clinical diagnostic criteria of the JAS pediatric FH 2022 guidelines demonstrated improved diagnostic efficiency compared with those of 2017, as evidenced by the increased sensitivity while preserving specificity.
摘要：
目的：家族性高胆固醇血症（FH）是一种遗传性疾病，其特征是低密度脂蛋白胆固醇（LDL-C）水平升高，这增加了过早冠状动脉疾病的风险。早期发现和治疗至关重要，尤其是儿童。为了改善儿童的FH诊断，日本动脉粥样硬化协会（JAS）于2022年7月发布了新指南。这项研究评估并比较了2017年和2022年JAS儿科FH指南的临床诊断标准的敏感性和特异性。
方法：从2020年9月至2023年3月，69名血浆LDL-C水平升高（≥140mg/dL）的儿童被纳入香川的儿科FH筛查项目。根据2017年和2022年JAS儿科FH指南的临床诊断标准，使用基因检测对儿童进行了评估。
结果：使用JAS儿科FH2017标准，8名儿童被诊断为FH阳性,61名儿童被诊断为FH阴性.JAS儿科FH2022标准确定了15名明确FH的儿童，31与可能的FH，和23可能的FH。基因检测在24名儿童中检测到FH致病变异。JAS儿科FH2017标准的敏感性和特异性分别为0.292和0.978。对于JAS儿科FH2022标准，对于明确的FH，敏感性为0.542，特异性为0.956，对于可能的FH，敏感性为0.917，特异性为0.467。
结论：与2017年相比，JAS儿科FH2022指南的临床诊断标准显示出提高的诊断效率，这可以通过增加的灵敏度同时保持特异性来证明。
方法：从2020年9月至2023年3月，69名血浆LDL-C水平升高（≥140mg/dL）的儿童被纳入香川的儿科FH筛查项目。根据2017年和2022年JAS儿科FH指南的临床诊断标准，使用基因检测对儿童进行了评估。
结果：使用JAS儿科FH2017标准，8名儿童被诊断为FH阳性,61名儿童被诊断为FH阴性.JAS儿科FH2022标准确定了15名明确FH的儿童，31与可能的FH，和23可能的FH。基因检测在24名儿童中检测到FH致病变异。JAS儿科FH2017标准的敏感性和特异性分别为0.292和0.978。对于JAS儿科FH2022标准，对于明确的FH，敏感性为0.542，特异性为0.956，对于可能的FH，敏感性为0.917，特异性为0.467。
结论：与2017年相比，JAS儿科FH2022指南的临床诊断标准显示出提高的诊断效率，这可以通过增加的灵敏度同时保持特异性来证明。
