Myotonic dystrophy type 1 (MD1) is the most common form of muscular dystrophy in adults. MD1 is caused by the expansion of CTG repeats in the DMPK gene and affects various organs beyond muscles. We present a case of a patient with MD1 exhibiting features of metabolic syndrome (MetS), including insulin resistance and dyslipidemia. The patient was treated with PCSK9 inhibitors, ezetimibe, and bempedoic acid because of intolerance. Metabolic syndrome is more prevalent in patients with muscle disorders like MD1, primarily caused by the sedentary lifestyle associated with muscle weakness. Although no specific studies on MetS frequency in MD1 exist, data on its components are available. This case highlights the management of MetS in MD1 with innovative therapies. Managing metabolic syndrome in MD1 patients requires personalized therapies. This case introduces a promising therapeutic approach for statin-intolerant patients.
Managing Myotonic Dystrophy Type 1 Complicated by Metabolic Syndrome / Pagnoni, G.; Nassar, A.; Grossule, F.; Paolini, M.; Maini, A.; Mattioli, A. V.; Boriani, G.; Coppi, F.. - In: JACC. CASE REPORTS. - ISSN 2666-0849. - 29:23(2024), pp. N/A-N/A. [10.1016/j.jaccas.2024.102761]
Managing Myotonic Dystrophy Type 1 Complicated by Metabolic Syndrome
Pagnoni G.;Nassar A.;Grossule F.;Paolini M.;Maini A.;Mattioli A. V.;Boriani G.;Coppi F.
2024
Abstract
Myotonic dystrophy type 1 (MD1) is the most common form of muscular dystrophy in adults. MD1 is caused by the expansion of CTG repeats in the DMPK gene and affects various organs beyond muscles. We present a case of a patient with MD1 exhibiting features of metabolic syndrome (MetS), including insulin resistance and dyslipidemia. The patient was treated with PCSK9 inhibitors, ezetimibe, and bempedoic acid because of intolerance. Metabolic syndrome is more prevalent in patients with muscle disorders like MD1, primarily caused by the sedentary lifestyle associated with muscle weakness. Although no specific studies on MetS frequency in MD1 exist, data on its components are available. This case highlights the management of MetS in MD1 with innovative therapies. Managing metabolic syndrome in MD1 patients requires personalized therapies. This case introduces a promising therapeutic approach for statin-intolerant patients.
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