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Objective This case report describes a novel use of proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitors in a patient whose glycogen storage disease (GSD) was unmasked by statin therapy. Evidence-based guidelines for the management of hyperlipidemia in patients with concurrent neuromuscular disorders (NMD) remain limited.

Methods We report the case of a 46-year-old man with hyperlipidemia, treated with simvastatin, who presented with 2 days of thigh pain without weakness or dark urine. He was diagnosed with statin-associated muscle symptoms. On further interview, the patient recalled experiencing thigh muscle soreness decades earlier while in the military, at which time his creatine phosphokinase (CPK) ranged between 1,200 and 3,000 U/L. He admitted not disclosing this history or a prior muscle biopsy.

Results Muscle biopsy and electromyography/nerve conduction velocity studies were followed by whole-exome sequencing, which demonstrated hemizygosity for c.2369+1 G>T, a pathogenic variant in the PHKA1 gene, consistent with GSD IXd. He was subsequently treated with 2 PCSK9 inhibitors (first evolocumab, then alirocumab). A comprehensive literature review identified only 2 previously reported cases of GSD treated with alirocumab.

Conclusion Even if not volunteered, a history of muscle symptoms should be actively sought before initiating statins, with baseline CPK measurement if indicated. As statins are increasingly prescribed, additional cases of GSD may be unmasked, underscoring the need to define optimal therapy for hyperlipidemia in NMD, including GSD. We propose a specific role for PCSK9 inhibitors in patients with statin intolerance and GSD IXd, which has not been previously reported.

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기사명 저자명 페이지 원문 목차
(A) position paper on lipoprotein(a) from the lipoprotein(a) task force of the Korean Society of Lipid and Atherosclerosis : current evidence, clinical applications, and future directions Youngwoo Jang, Jang Hoon Lee, Sang-Guk Lee, Hun Jee Choe, Sang Min Park, In-Kyung Jeong, Byung Jin Kim p. 2-25
Selected genes associated with CVD-related diseases, pathways, and nutrigenetics Seyma Sehadet Tasdemir, Gamze Akbulut p. 26-47
(The) role of galectin-3 in atherosclerosis and its cardiovascular complications : an update Pedro Bortoleto Colombo, João Victor Silveira Camargo, Vanessa Leiria Campo, Marcelo Fiori Marchiori, Aline Barbosa Ribeiro p. 48-56
Atherosclerosis progression in native coronaries after coronary artery bypass grafting : a state-of-the-art review Hesham Salah El-Din Taha, Omar Younis, Mirna Mamdouh p. 57-71
Olezarsen and beyond : emerging targeted treatments for familial chylomicronemia syndrome and related triglyceride disorders Meghashree N, Kushal CB, Shivaraj DR p. 72-87
(The) relationship between low-density lipoprotein cholesterol levels and cardiovascular risk in Koreans with and without diabetes Ji Hye Heo, Taehwa Go, Dae Ryong Kang p. 88-97
Associations of changes in metabolic syndrome status and risk factor count with incident cardiovascular events among cancer survivors Jaeyong Lee, Hyeok-Hee Lee, Eun-Jin Kim, Hyeon Chang Kim, Hokyou Lee p. 98-110
Associations of dietary intake with cardiovascular diseases, blood pressure, and lipid profile in the Korean population : an updated systematic review and meta-analysis Jeongseon Kim, Madhawa Gunathilake, Tung Hoang, Oh Yoen Kim p. 111-137
Prevalence of statin intolerance in a primary care Portuguese population : a retrospective cohort study Cristina Gavina, Francisco Araújo, Ana Rita Luz, Cristina Jácome Jorge A. Ruivo, Carla Teixeira p. 138-150
Association between lipid-lowering drug use and sarcopenia : analysis of the Korea National Health and Nutrition Examination Survey Ah-Reum Shin, Keun-Gyu Park, Sung-Woo Kim p. 151-160
Hypertriglyceridemia in type 2 diabetes is associated with T regulatory cell dysfunction Karthik Raj, Seema Garg, Mohit Mehndiratta, SV Madhu, Rajarshi Kar, Edelbert Anthonio Almeida p. 161-172
Tigloylgomisin P inhibits endothelial inflammation by regulating the NF-κB and Smad1/5/9 pathways Minjeong Shin, Junhyeon Ku, Jenita Immanuel, Nayeong Kwon, Sanguk Yun p. 173-182
Hypercholesterolemia successfully treated with two different PCSK9 inhibitors in a patient with glycogen storage disease IXd : phosphorylase kinase deficiency Tiffany Huynh, Hien Nguyen, Michelle Nguyen p. 183-192

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