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动脉堵塞、安全网漏洞：用血浆置换法治疗一名患有纯合子家族性高胆固醇血症的未充分参保患者

Clogged Arteries, Safety Net Holes: Treating an Underinsured Patient for Homozygous Familial Hypercholesterolemia With Plasmapheresis.

作者信息

Patel Parth, Alinnor Iheoma, Hall Mary Ann Kirkconnell, Hall Lance T, Watkins Stacey

机构信息

Division of Hospital Medicine, Emory University School of Medicine, Atlanta, USA.

Hospital Medicine Service, Grady Memorial Hospital, Atlanta, USA.

出版信息

Cureus. 2024 Sep 25;16(9):e70174. doi: 10.7759/cureus.70174. eCollection 2024 Sep.

DOI:10.7759/cureus.70174
PMID:39463575
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11506492/
Abstract

This case report explores the difficulties with rapid lipid-lowering therapies in a resource-limited setting. We present a case of an individual with previously diagnosed homozygous familial hypercholesterolemia presenting with anginal chest pain concerning for non-ST elevation myocardial infarction (NSTEMI), with a low-density lipoprotein (LDL) of 984 mg/dL (reference range: 100-129 mg/dL) and a reversible perfusion defect on his nuclear medicine stress test. In addition to the standard treatment for NSTEMI, including cardiac catheterization, the patient was initiated on a proprotein convertase subtilisin/kexin type 9 inhibitor and underwent two rounds of plasmapheresis, which effectively and rapidly lowered his LDL levels.

摘要

本病例报告探讨了在资源有限的环境中进行快速降脂治疗的困难。我们报告了一例先前诊断为纯合子家族性高胆固醇血症的患者，该患者出现了疑似非ST段抬高型心肌梗死（NSTEMI）的心绞痛，低密度脂蛋白（LDL）为984 mg/dL（参考范围：100 - 129 mg/dL），并且在核医学负荷试验中有可逆性灌注缺损。除了NSTEMI的标准治疗（包括心脏导管插入术）外，该患者开始使用前蛋白转化酶枯草溶菌素/kexin 9型抑制剂，并接受了两轮血浆置换，这有效地且迅速地降低了他的LDL水平。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f7a/11506492/b9ecd5007487/cureus-0016-00000070174-i07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f7a/11506492/de54a0fc3532/cureus-0016-00000070174-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f7a/11506492/5470fd2959b1/cureus-0016-00000070174-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f7a/11506492/00ff060ee940/cureus-0016-00000070174-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f7a/11506492/01f461714bf1/cureus-0016-00000070174-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f7a/11506492/98cfe99794fa/cureus-0016-00000070174-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f7a/11506492/c9db7cd3a2dc/cureus-0016-00000070174-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f7a/11506492/b9ecd5007487/cureus-0016-00000070174-i07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f7a/11506492/de54a0fc3532/cureus-0016-00000070174-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f7a/11506492/5470fd2959b1/cureus-0016-00000070174-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f7a/11506492/00ff060ee940/cureus-0016-00000070174-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f7a/11506492/01f461714bf1/cureus-0016-00000070174-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f7a/11506492/98cfe99794fa/cureus-0016-00000070174-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f7a/11506492/c9db7cd3a2dc/cureus-0016-00000070174-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f7a/11506492/b9ecd5007487/cureus-0016-00000070174-i07.jpg

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本文引用的文献

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Cureus. 2023 Nov 20;15(11):e49121. doi: 10.7759/cureus.49121. eCollection 2023 Nov.
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International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia.国际动脉粥样硬化学会家族性高胆固醇血症管理最佳实践实施指南。
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基于证据的纯合子家族性高胆固醇血症管理机制方法
JACC Case Rep. 2022 Oct 19;4(20):1331-1334. doi: 10.1016/j.jaccas.2022.08.017.
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