The Diagnostic Criteria 2020 for Triglyceride Deposit Cardiomyovasculopathy.
The Diagnostic Criteria 2020 for Triglyceride Deposit Cardiomyovasculopathy.
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DOI：
10.17996/anc.20-00131
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发表时间：
2020-01-01
期刊：
影响因子：
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通讯作者：
Hirano, Ken-Ichi
中科院分区：
文献类型：
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作者：
Kobayashi, Kunihisa;Sakata, Yasuhiko;Hirano, Ken-Ichi
甘油三酯沉积性心肌病（TGCV）是2008年日本在需要心脏移植的个体中发现的一种新发现的疾病。细胞内脂解缺陷导致甘油三酯（TG）在心肌和冠状动脉血管平滑肌细胞中积累，导致严重的心力衰竭和冠状动脉疾病，预后不良。TGCV的一个已知原因是脂肪甘油三酯脂肪酶（ATGL）的遗传缺陷，ATGL是细胞内TG水解的限速酶。TGCV分为具有ATGL突变的原发性TGCV和不具有ATGL突变的特发性TGCV。自发现以来，日本TGCV研究小组一直试图阐明其病理生理学，开发诊断程序和特异性治疗。碘-123- β -甲基碘苯-五酸（123I-BMIPP）心肌显像是一种评估体内心肌脂肪分解的独特成像方式。123I-BMIPP的洗脱率是TGCV诊断的重要指标。随着我们努力提供对这种疾病概念的认识和见解，我们发现临床诊断患者的累计数量已达到200万例，病例分布在日本各地。此外，我们于2020年6月成功完成了由日本厚生劳动省根据SAKIGAKE指定系统指定的TGCV潜在治疗剂（CNT-01）的三项研究者发起的临床试验。为进一步推进TGCV这一“罕见难治性疾病”项目，特制定《TGCV诊断标准2020》。
Triglyceride deposit cardiomyovasculopathy (TGCV) is a newly identified disease that was discovered in individuals who required cardiac transplantation in Japan in 2008. Defective intracellular lipolysis causes triglyceride (TG) accumulation in the myocardium and coronary artery vascular smooth muscle cells, which results in severe heart failure and coronary artery disease with poor prognosis. A known cause of TGCV is a genetic deficiency of adipose triglyceride lipase (ATGL), a rate-limiting enzyme in the intracellular hydrolysis of TG. TGCV is classified into primary TGCV with ATGL mutations and idiopathic TGCV without ATGL mutations. Since its discovery, the Japan TGCV Study Group has attempted to elucidate its pathophysiology, develop diagnostic procedures, and specific treatment. Myocardial scintigraphy with iodine-123-beta-methyl iodophenyl-pentadecanoic acid (123I-BMIPP) is a unique imaging modality for evaluating myocardial lipolysis in vivo. The washout rate of 123I-BMIPP is an essential indicator for the diagnosis of TGCV. Along with our efforts to provide awareness of and insights into this disease concept, we found that the cumulative number of clinically diagnosed patients has reached >200 and the cases are distributed throughout Japan. In addition, we successfully completed three investigator-initiated clinical trials of a potential therapeutic agent (CNT-01) for TGCV, which was assigned by the Ministry of Health, Labour, and Welfare, Japan, under the SAKIGAKE Designation System in June 2020. Here, we provide the Diagnostic Criteria 2020 for TGCV in order to further promote this "rare and intractable disease" project.