Tada Hayato, Okada Hirofumi, Nomura Akihiro, Nohara Atsushi, Takamura Masayuki, Kawashiri Masa-Aki
Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan.
Intern Med. 2020;59(6):783-787. doi: 10.2169/internalmedicine.3737-19. Epub 2020 Mar 15.
We present the first case of a Japanese patient with familial hypobetalipoproteinemia (FHBL) caused by a protein-truncating variant in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene. A 34-year-old woman was referred to our hospital due to her low low-density lipoprotein (LDL)-cholesterolemia (34 mg/dL). She did not have any secondary causes of hypobetalipoproteinemia. Her father and her younger sister also exhibited low LDL cholesterol levels. We identified a protein-truncating variant in the PCSK9 gene (c.1090_1091del/p.Pro364ArgfsTer62) among them. None of them exhibited atherosclerotic cardiovascular diseases nor any other complications associated with low LDL cholesterol, including fatty liver, neurocognitive disorders, or cerebral hemorrhaging.
我们报告了首例由前蛋白转化酶枯草溶菌素/kexin 9型（PCSK9）基因中的蛋白截短变异导致家族性低β脂蛋白血症（FHBL）的日本患者。一名34岁女性因低密度脂蛋白（LDL）胆固醇血症水平低（34mg/dL）转诊至我院。她没有低β脂蛋白血症的任何继发原因。她的父亲和妹妹也表现出低LDL胆固醇水平。我们在他们中发现了PCSK9基因中的一个蛋白截短变异（c.1090_1091del/p.Pro364ArgfsTer62）。他们中没有人表现出动脉粥样硬化性心血管疾病，也没有任何与低LDL胆固醇相关的其他并发症，包括脂肪肝、神经认知障碍或脑出血。
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