ArticleJACC. Asia2023
Clinical Characteristics of Homozygous Familial Hypercholesterolemia in Japan: A Survey Using a National Database.
Article in JACC. Asia, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- An Improved Prognosis in Subjects With Homozygous Familial Hypercholesterolemia Associated With Advances in LDL-Lowering Therapy.Journal of atherosclerosis and thrombosis · 2026Article
- Oral Semaglutide Further Reduced LDL Cholesterol in a Patient with Familial Hypercholesterolemia Treated with Statins, Ezetimibe, and Evolocumab.Internal medicine (Tokyo, Japan) · 2026Article
- Genetic Testing for Children with Familial Hypercholesterolemia.Journal of atherosclerosis and thrombosis · 2026Review
- Oligogenic Familial Hypercholesterolemia Treated by Combination Therapy of Statin, Ezetimibe, PCSK9 Inhibitor, and Lomitapide.Internal medicine (Tokyo, Japan) · 2025Article
- TumorXDB: an integrated multi-omics xWAS/xQTL platform for cross-ethnic pan-cancer analysis.Journal of translational medicine · 2025Article
- Article
- Intensive Combination LDL-Lowering Therapy in a Patient With Homozygous Familial Hypercholesterolemia.JACC. Case reports · 2024Article
- Transitional Medicine of Intractable Primary Dyslipidemias in Japan.Journal of atherosclerosis and thrombosis · 2024Review
- Review
- Paradoxical Findings in Homozygous Familial Hypercholesterolemia in Japan: Longer Life But Still Not Totally Better!JACC. Asia · 2023Article
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: The studies evaluating patients' characteristics and lipid-lowering therapy for patients with homozygous familial hypercholesterolemia (HoFH) are scarce. Objectives: This study aims to evaluate the characteristics of and treatments for patients with HoFH. Methods: This study included 201 patients who were diagnosed with definite or probable HoFH from the National Database of the Japanese Ministry of Health, Labour, and Welfare. Results: The patients' median age at diagnosis was 27 years and exhibited a bimodal distribution. Approximately 70% of patients had coronary artery disease. Regarding genetic backgrounds, mutations in the low-density lipoprotein (LDL) receptor ( Conclusions: The national epidemiological study of patients with HoFH showed patient's clinical and genetic characteristics and LDL-lowering therapy in Japan. There was considerable diversity in the severity of phenotypes, including LDL cholesterol levels, among patients with HoFH. In Japan, the management of LDL cholesterol in HoFH is still inadequate despite the availability of intensive lipid-lowering therapies.
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