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Matsunaga, Keiji; Mizobuchi, Asako; Fu, Hai Ying; Ishikawa, Shohei; Tada, Hayato; Kawashiri, Masa-aki; Yokota, Ichiro; Sasaki, Tsuyoshi; Ito, Shigeru; Kunikata, Jun; Iwase, Takashi; Hirao, Tomohiro; Yokoyama, Katsunori; Hoshikawa, Yoichi; Fujisawa, Takuji; Dobashi, Kazushige; Kusaka, Takashi; Minamino, Tetsuo
Journal of Atherosclerosis and Thrombosis, 2022-Jun-01, Letnik: 29, Številka: 6Journal Article
Aim: Familial hypercholesterolemia (FH) is an underdiagnosed autosomal dominant genetic disorder characterized by high levels of plasma low-density lipoprotein cholesterol (LDL-C) from birth. This study aimed to assess the genetic identification of FH in children with high LDL-C levels who are identified in a universal pediatric FH screening in Kagawa, Japan.Method: In 2018 and 2019, 15,665 children aged 9 or 10 years underwent the universal lipid screening as part of the annual health checkups for the prevention of lifestyle-related diseases in the Kagawa prefecture. After excluding secondary hyper-LDL cholesterolemia at the local medical institutions, 67 children with LDL-C levels of ≥ 140 mg/dL underwent genetic testing to detect FH causative mutations at four designated hospitals.Results: The LDL-C levels of 140 and 180 mg/dL in 15,665 children corresponded to the 96.3 and 99.7 percentile values, respectively. Among 67 children who underwent genetic testing, 41 had FH causative mutations (36 in the LDL-receptor, 4 in proprotein convertase subtilisin/kexin type 9, and 1 in apolipoprotein B). The area under the curve of receiver operating characteristic curve predicting the presence of FH causative mutation by LDL-C level was 0.705, and FH causative mutations were found in all children with LDL-C levels of ≥ 250 mg/dL.Conclusion: FH causative mutations were confirmed in almost 60% of the referred children, who were identified through the combination of the lipid universal screening as a part of the health checkup system and the exclusion of secondary hyper-LDL cholesterolemia at the local medical institutions.
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