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.
Keywords: PCSK9 use in Schwartz jampel syndrome; Schwartz jampel syndrome; myopathy; statin Intolerance; statin use in schwartz jampel syndrome.