Successful Plasmapheresis and Immunoglobulin Treatment for Severe Lipid Storage Myopathy: Doing the Right Thing for the Wrong Reason
Studysummary This correspondence reports the case of a young woman with severe lipid storage myopathy due to a rare mutation, who showed significant temporary improvement with plasmapheresis and immunoglobulin treatment before stabilizing with riboflavin and coenzyme Q10 supplementation, challenging the initial assumption of an immune-mediated condition. Our plain-language summary of this paper — not a Tressless recommendation.
A young woman with severe lipid storage myopathy, initially misdiagnosed and treated ineffectively with steroids, showed significant temporary improvement in muscle strength and respiratory function following plasmapheresis and intravenous immunoglobulin treatment. Genetic testing later confirmed a diagnosis of riboflavin-responsive Multiple Acyl-CoA Dehydrogenase Deficiency (RR-MADD) due to a rare ETFDH gene mutation. Long-term stabilization was achieved with riboflavin and coenzyme Q10 supplementation. This case underscored the importance of detailed morphological and genetic analyses in diagnosing lipid storage myopathies and highlighted the potential for misdiagnosis due to temporary responses to immunomodulatory treatments.
