{"title":"Statin-Induced Myopathy in a Patient with Schwartz-Jampel Syndrome.","authors":"Mandeep K Rajpal, Farah K Sedki, Tony J Eid","doi":"10.1177/08971900231213694","DOIUrl":null,"url":null,"abstract":"<p><p>Schwartz Jampel syndrome (SJS) is a genetic disorder characterized by myotonia and chondrodysplasia. Mutations of the Perlecan gene (HSPG2), which encodes a key component of the extracellular matrix of muscle, bone, and cartilage is cause for the characteristic dysmorphisms of SJS. Clinically remarkable creatinine phosphokinase (CPK) levels are typical and can be associated with myotonia as an underlying cause in SJS patients. We report a unique case of a symptomatic adverse event of statin use in a SJS patient who demonstrated heightened levels of CPK to baseline following a statin induced myopathy. Discontinuation of the statin and administration of a PCSK-9 inhibitor revealed a return to baseline CPK. This case challenges the current lipid treatment algorithm as it pertains to SJS patients. Further investigation into treatment is required in this special population.</p>","PeriodicalId":1,"journal":{"name":"Accounts of Chemical Research","volume":null,"pages":null},"PeriodicalIF":16.4000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Accounts of Chemical Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/08971900231213694","RegionNum":1,"RegionCategory":"化学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/11/6 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"CHEMISTRY, MULTIDISCIPLINARY","Score":null,"Total":0}
引用次数: 0
Abstract
Schwartz Jampel syndrome (SJS) is a genetic disorder characterized by myotonia and chondrodysplasia. Mutations of the Perlecan gene (HSPG2), which encodes a key component of the extracellular matrix of muscle, bone, and cartilage is cause for the characteristic dysmorphisms of SJS. Clinically remarkable creatinine phosphokinase (CPK) levels are typical and can be associated with myotonia as an underlying cause in SJS patients. We report a unique case of a symptomatic adverse event of statin use in a SJS patient who demonstrated heightened levels of CPK to baseline following a statin induced myopathy. Discontinuation of the statin and administration of a PCSK-9 inhibitor revealed a return to baseline CPK. This case challenges the current lipid treatment algorithm as it pertains to SJS patients. Further investigation into treatment is required in this special population.
期刊介绍：
Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance.
Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
