1. Statin-Induced Myopathy in a Patient with Schwartz-Jampel Syndrome.
- Author
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Rajpal MK, Sedki FK, and Eid TJ
- Subjects
- Humans, Male, Creatine Kinase blood, Middle Aged, PCSK9 Inhibitors, Hydroxymethylglutaryl-CoA Reductase Inhibitors adverse effects, Muscular Diseases chemically induced, Osteochondrodysplasias chemically induced, Osteochondrodysplasias genetics
- 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., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
- Published
- 2024
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