Guidelines for the Diagnosis and Treatment of Pediatric Familial Hypercholesterolemia 2022

Mariko Harada-Shiba; Akira Ohtake; Daisuke Sugiyama; Hayato Tada; Kazushige Dobashi; Kota Matsuki; Tetsuo Minamino; Shizuya Yamashita; Yukiyo Yamamoto

doi:10.5551/jat.CR006

Correspondence

Guidelines for the Diagnosis and Treatment of Pediatric Familial Hypercholesterolemia 2022

Mariko Harada-Shiba, Akira Ohtake, Daisuke Sugiyama, Hayato Tada, Kazushige Dobashi, Kota Matsuki, Tetsuo Minamino, Shizuya Yamashita, Yukiyo Yamamoto

Author information

Mariko Harada-Shiba
Cardiovascular Center, Osaka Medical and Pharmaceutical University
Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute
Akira Ohtake
Department of Pediatrics, Faculty of Medicine, Saitama Medical University
Daisuke Sugiyama
Faculty of Nursing and Medical Care, Keio University
Hayato Tada
Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine
Kazushige Dobashi
Department of Pediatrics, School of Medicine, University of Yamanashi
Kota Matsuki
Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine
Tetsuo Minamino
Department of Cardiorenal and Cerebrovascular Medicine, Faculty of Medicine, Kagawa University
Shizuya Yamashita
Department of Cardiology, Rinku General Medical Center
Yukiyo Yamamoto
Department of Medical Education, Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Japan

Keywords: Pediatric, Familial Hypercholesterolemia, Homozygote, Heterozygote, Diagnostic criteria, Treatment guidelines, Lifestyle, Pharmacological therapy, Low-density lipoprotein apheresis, Statins

JOURNAL OPEN ACCESS FULL-TEXT HTML

2023 Volume 30 Issue 5 Pages 531-557

DOI https://doi.org/10.5551/jat.CR006

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Abstract

As atherosclerosis begins in childhood, early diagnosis and treatment of familial hypercholesterolemia (FH) is considered necessary. The basic diagnosis of pediatric FH (under 15 years of age) is based on hyper-low-density lipoprotein (LDL) cholesterolemia and a family history of FH; however, in this guideline, to reduce overlooked cases, “probable FH” was established. Once diagnosed with FH or probable FH, efforts should be made to promptly provide lifestyle guidance, including diet. It is also important to conduct an intrafamilial survey, to identify family members with the same condition. If the level of LDL-C remains above 180 mg/dL, drug therapy should be considered at the age of 10. The first-line drug should be statin. Evaluation of atherosclerosis should be started using non-invasive techniques, such as ultrasound. The management target level is an LDL-C level of less than 140 mg/dL. If a homozygous FH is suspected, consult a specialist and determine the response to pharmacotherapy with evaluating atherosclerosis. If the response is inadequate, initiate lipoprotein apheresis as soon as possible.

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