A case with familial hypercholesterolemia complicated with severe systemic atherosclerosis intensively treated for more than 30 years
A case with familial hypercholesterolemia complicated with severe systemic atherosclerosis intensively treated for more than 30 years
复制标题
家族性高胆固醇血症合并严重全身动脉粥样硬化30余年强化治疗一例
DOI：
10.1016/j.jccase.2020.06.012
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发表时间：
2020
期刊：
影响因子：
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通讯作者：
Kawashiri MA
中科院分区：
文献类型：
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作者：
Nishikawa T;Tada H;Nakagawa-Kamiya T;Niwa S;Yoshida S;Mori M;Sakata K;Nohara A;Higashikata T;Kato H;Ino K;Takemura H;Takamura M;Kawashiri MA
我们提出了一例日本患者的家族性高胆固醇血症（FH）引起的低密度脂蛋白（LDL）受体基因突变。一名47岁女性因全身性黄瘤病伴高ldl -胆固醇血症（292 mg/dl）转诊至我院。她被诊断为杂合性FH，并开始使用辛伐他汀10mg治疗。在她的临床过程中，她接受了经皮冠状动脉介入治疗（PCI）（69岁），冠状动脉搭桥术（CABG）两次（62岁和75岁），股腘动脉搭桥术（67岁），以及强化降脂治疗，包括蛋白转化酶枯草杆菌素/克心蛋白9型（PCSK9）抑制剂。患者于78岁时因严重主动脉瓣狭窄及病窦综合征所致的用力呼吸困难入院。DDD起搏器植入术后采用球囊膨胀性瓣膜行经导管主动脉瓣植入术（TAVI）。她出院时没有任何症状。在我院30多年的治疗期间，我们引进了最新的治疗策略，对她进行了集中治疗。我们感到自豪的是，即使在这种严重的情况下，我们也能通过几十年来制定的多种战略挽救生命；然而，这个病例清楚地表明，FH患者应该更早地开始降脂治疗。学习目标：利用几十年来发展的各种策略，我们可以挽救家族性高胆固醇血症（FH）合并系统性动脉粥样硬化患者的健康生命。然而，FH患者的降脂治疗应该在他或她表现出系统性黄瘤病之前就开始
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.<Learning objective: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.>