Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences.
Division of Endocrinology and Metabolism, Department of Internal Medicine, School of Medicine, Jichi Medical University.
J Atheroscler Thromb. 2022 Jun 1;29(6):953-969. doi: 10.5551/jat.63222. Epub 2021 Oct 22.
Primary dyslipidemias are inherited disorders in plasma lipoprotein metabolism that lead to serious cardiovascular and other complications. The Japanese Ministry of Health, Labor and Welfare (MHLW) covers medical expenses, under the Research Program on Rare and Intractable Diseases, for homozygous familial hypercholesterolemia (FH), familial chylomicronemia, sitosterolemia, cerebrotendinous xanthomatosis, lecithin:cholesterol acyltransferase deficiency, Tangier disease, and abetalipoproteinemia. Apolipoprotein A1 deficiency, heterozygous FH, and type III hyperlipoproteinemia are covered by the MHLW Pediatric Chronic Disease Program. Heterozygous FH and type III hyperlipoproteinemia are also important for their relatively common prevalence and, accordingly, high impact on Japanese public health by significant contribution to the overall prevalence of cardiovascular diseases. Therefore, a systemic survey of these diseases is mandatory to estimate their actual situation, such as prevalence, clinical manifestations, and prognoses among the Japanese population. The impact of these rare and intractable diseases on cardiovascular and other complications will likely be higher among Japanese people than other ethnicities because the general Japanese population has many cardioprotective aspects. The current study intends to conduct a multicenter registry of these diseases to assess their demographics and clinical features comprehensively.
The Prospective Registry Study of Primary Dyslipidemia is a registry-based prospective, observational, multicenter cohort study in Japan, enrolling patients who fulfill the Japanese clinical criteria of the primary dyslipidemias listed above, from 26 participating institutes from August 2015 to March 2023. A total of 1,000 patients will be enrolled in the study and followed for 10 years. Clinical parameters are collected, including physical and laboratory findings, genetic analysis, drugs, lifestyle management, and clinical events, especially cardiovascular events. The primary endpoint of this study is the new onset of cardiovascular disease and acute pancreatitis, and the secondary endpoint is death from any causes.
This study complies with the Declaration of Helsinki, the Ethical Guidelines for Medical and Health Research Involving Human Subjects, and all other applicable laws and guidelines in Japan. The institutional review boards have approved this study protocol at all participating institutes. The final results are to be published at appropriate international conferences and in peer-reviewed journals.
原发性血脂异常是一种血浆脂蛋白代谢的遗传性疾病，可导致严重的心血管和其他并发症。日本厚生劳动省（MHLW）通过罕见和疑难疾病研究计划，为家族性高胆固醇血症（FH）、家族性乳糜微粒血症、植物固醇血症、脑腱黄瘤病、卵磷脂胆固醇酰基转移酶缺乏症、Tangier 病和转甲状腺素蛋白血症等纯合子患者承担医疗费用。载脂蛋白 A1 缺乏症、杂合子 FH 和 III 型高脂蛋白血症则被纳入 MHLW 小儿慢性疾病计划。杂合子 FH 和 III 型高脂蛋白血症也因其相对常见的发病率以及对日本公众健康的重大影响而受到重视，因为它们对心血管疾病的总体发病率有很大贡献。因此，对这些疾病进行系统调查以评估其在日本人群中的实际情况，如患病率、临床表现和预后，是必要的。由于日本人群具有许多心脏保护因素，这些罕见和疑难疾病对心血管和其他并发症的影响可能高于其他种族。本研究旨在对这些疾病进行多中心登记，以全面评估其人口统计学和临床特征。
原发性血脂异常前瞻性登记研究是一项在日本进行的基于登记的前瞻性、观察性、多中心队列研究，纳入了自 2015 年 8 月至 2023 年 3 月期间，来自 26 家参与机构的符合上述原发性血脂异常日本临床标准的患者。该研究共纳入 1000 例患者，随访 10 年。收集临床参数，包括体格检查和实验室发现、基因分析、药物、生活方式管理和临床事件，特别是心血管事件。该研究的主要终点是新发心血管疾病和急性胰腺炎，次要终点是任何原因导致的死亡。
本研究符合赫尔辛基宣言、涉及人体医疗和健康研究的伦理准则以及日本所有其他适用的法律和准则。所有参与机构的机构审查委员会均已批准该研究方案。最终结果将在适当的国际会议和同行评议期刊上发表。
