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Improved Efficiency of the Clinical Diagnostic Criteria for Familial Hypercholesterolemia in Children: A Comparison of the Japan Atherosclerosis Society Guidelines of 2017 and 2022.
- Source :
-
Journal of atherosclerosis and thrombosis [J Atheroscler Thromb] 2024 Jul 01; Vol. 31 (7), pp. 1048-1057. Date of Electronic Publication: 2024 Feb 02. - Publication Year :
- 2024
-
Abstract
- Aims: 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.<br />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.<br />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.<br />Conclusion: 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.
- Subjects :
- Humans
Child
Female
Male
Japan epidemiology
Genetic Testing methods
Genetic Testing standards
Adolescent
Cholesterol, LDL blood
Practice Guidelines as Topic
Child, Preschool
Atherosclerosis diagnosis
Atherosclerosis blood
Sensitivity and Specificity
Societies, Medical
Hyperlipoproteinemia Type II diagnosis
Hyperlipoproteinemia Type II genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1880-3873
- Volume :
- 31
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Journal of atherosclerosis and thrombosis
- Publication Type :
- Academic Journal
- Accession number :
- 38311417
- Full Text :
- https://doi.org/10.5551/jat.64513