Caveolin 3 deficiency myopathy associated with dyslipidemia: Treatment challenges and possible pathophysiological...

We report the case of a patient treated at the lipid clinic because of high cholesterol levels with consistently elevated creatine kinase concentrations that precluded statin treatment. Electromyography showed a rippling muscle disease pattern. A muscle biopsy confirmed caveolin 3 deficiency, and a missense mutation in the CAV3 gene was identified. The patient could be properly managed with ezetimibe and cholestyramine, which reduced the low-density lipoprotein cholesterol by 30%. He remains asymptomatic after 10 years of follow-up. Caveolae and caveolins are essential to membrane integrity, and their deficit has been associated with insulin resistance and hypercholesterolemia in animal models. Therefore, a putative pathophysiological association between myopathy and lipid metabolism mediated by functional alterations of membrane receptors is considered.