Nishikawa Tetsuo, Tada Hayato, Nakagawa-Kamiya Tamami, Niwa Satoru, Yoshida Shohei, Mori Mika, Sakata Kenji, Nohara Atsushi, Higashikata Toshinori, Kato Hiroki, Ino Kenji, Takemura Hirofumi, Takamura Masayuki, Kawashiri Masa-Aki
Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
J Cardiol Cases. 2020 Jun 30;22(5):216-220. doi: 10.1016/j.jccase.2020.06.012. eCollection 2020 Nov.
We present a case of a Japanese patient with familial hypercholesterolemia (FH) caused by a low-density lipoprotein (LDL) receptor gene mutation. A 47-year-old female was referred to our hospital due to her systemic xanthomatosis associated with elevated LDL-cholesterolemia (292 mg/dl). She was diagnosed with heterozygous FH, and started to be treated with simvastatin 10 mg. During her clinical course, she underwent percutaneous coronary intervention (PCI) (at 69 years), coronary artery bypass grafting (CABG) twice (at 62 years, and 75 years), femoral popliteal bypass surgery (at 67 years), together with intensification of lipid-lowering therapies, including proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor. She was admitted to our hospital due to dyspnea on effort, caused by severe aortic valve stenosis as well as sick sinus syndrome at the age of 78 years. transcatheter aortic valve implantation (TAVI) using balloon expandable valve was successfully performed after DDD pacemaker implantation. She was discharged from our hospital without any symptoms. During more than 30 years of treatment period in our institute, we have introduced the latest therapeutic strategies, and treated her intensively. We are proud that we can save life even in this severe case through multiple strategies developed over the decades; however, this case clearly suggests that lipid-lowering therapies should be started much earlier in patients with FH. < Using a variety of strategies developed over the decades, we can save healthy life in patients with familial hypercholesterolemia (FH) complicated with systemic atherosclerosis. However, lipid-lowering therapies in patients with FH should be started much earlier than the point where he or she exhibits systemic xanthomatosis.>.
我们报告一例由低密度脂蛋白（LDL）受体基因突变引起家族性高胆固醇血症（FH）的日本患者。一名47岁女性因全身黄瘤病伴LDL胆固醇水平升高（292mg/dl）转诊至我院。她被诊断为杂合子FH，并开始接受10mg辛伐他汀治疗。在其临床过程中，她接受了经皮冠状动脉介入治疗（PCI）（69岁时）、两次冠状动脉旁路移植术（CABG）（62岁和75岁时）、股腘动脉旁路手术（67岁时），同时强化降脂治疗，包括使用前蛋白转化酶枯草溶菌素/kexin 9型（PCSK9）抑制剂。她在78岁时因劳力性呼吸困难入院，病因是严重主动脉瓣狭窄以及病态窦房结综合征。在植入DDD起搏器后，成功进行了使用球囊扩张瓣膜的经导管主动脉瓣植入术（TAVI）。她出院时无症状。在我院30多年的治疗期间，我们引入了最新的治疗策略，并对她进行了强化治疗。我们很自豪，通过几十年来制定的多种策略，即使在这种严重病例中我们也能挽救生命；然而，这个病例清楚地表明，FH患者的降脂治疗应更早开始。<通过使用几十年来制定的各种策略，我们可以挽救患有家族性高胆固醇血症（FH）并伴有全身动脉粥样硬化的患者的健康生命。然而，FH患者的降脂治疗应比出现全身黄瘤病的时间点更早开始。>
