Pagnoni Gianluca, Nassar Ashraf, Grossule Francesca, Paolini Matteo, Maini Arianna, Mattioli Anna Vittoria, Boriani Giuseppe, Coppi Francesca
Cardiology Unit, Policlinico di Modena Hospital, Modena, Italy.
Technical and Applied Medical Sciences Sector at Alma Mater Studiorum, University of Bologna, Bologna, Italy.
JACC Case Rep. 2024 Dec 4;29(23):102761. doi: 10.1016/j.jaccas.2024.102761.
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.
1型强直性肌营养不良（MD1）是成人中最常见的肌营养不良形式。MD1由DMPK基因中CTG重复序列的扩增引起，并影响肌肉以外的各种器官。我们报告了一例MD1患者，其表现出代谢综合征（MetS）的特征，包括胰岛素抵抗和血脂异常。由于不耐受，该患者接受了前蛋白转化酶枯草溶菌素9（PCSK9）抑制剂、依折麦布和贝派地酸治疗。代谢综合征在MD1等肌肉疾病患者中更为普遍，主要是由与肌肉无力相关的久坐不动的生活方式引起的。虽然目前尚无关于MD1中代谢综合征发生率的具体研究，但有关其组成部分的数据是可用的。本病例突出了采用创新疗法管理MD1中的代谢综合征。管理MD1患者的代谢综合征需要个性化治疗。本病例为他汀类药物不耐受患者引入了一种有前景的治疗方法。
