Department of Endocrinology, Diabetes and Metabolic Disease, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Department of Internal Medicine, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Muscle Nerve. 2024 Dec;70(6):1230-1239. doi: 10.1002/mus.28275. Epub 2024 Oct 5.
INTRODUCTION/AIMS: Changes in body composition in patients with spinal muscular atrophy (SMA) can cause endocrine abnormalities that are insufficiently studied in adults. We aimed to assess the endocrine profile in a cohort of adults with SMA. Second, we compared body composition and endocrine profiles between nonambulatory and ambulatory patients and between different types of SMA.
The cross-sectional study included 29 SMA patients (18 [62.1%] males and 11 [37.9%] females) of median age 44 (IQR 30-51.5) years with type 2, 3, or 4. Body composition was measured by bioimpedance. Morning blood samples were drawn for glycated hemoglobin (HbA1c), lipid profile, testosterone, cortisol, and insulin-like growth factor-1 (IGF-1). Blood glucose, insulin, and beta-hydroxybutyrate (BHB) were measured during a 75 g oral glucose tolerance test. The homeostatic model assessment for insulin resistance index was calculated.
In total, 75.9% of patients had increased fat mass (FM), with 51.7% having an increase despite normal body mass index. Ambulation was the most important discriminating factor of body composition. 93.1% of patients had metabolic abnormalities, including hyperglycemia, insulin resistance, and dyslipidemia. Increased BHB, a marker of ketosis, was present in more than a third of patients. Functional hypogonadism was present in half of male patients. Testosterone and IGF-1 negatively correlated with FM.
Adult patients with SMA had abnormal body composition and highly prevalent metabolic disturbances that might increase cardiometabolic risk. Because treatments have modified the course of SMA, it is important to investigate whether these observations translate into clinically relevant outcomes.
简介/目的：脊髓性肌萎缩症（SMA）患者的身体成分变化可导致内分泌异常，而这些异常在成人中研究不足。我们旨在评估一组 SMA 成年患者的内分泌状况。其次，我们比较了非运动和运动患者以及不同类型 SMA 之间的身体成分和内分泌特征。
这项横断面研究纳入了 29 名 SMA 患者（18 名男性[62.1%]和 11 名女性[37.9%]），中位年龄为 44 岁（IQR 30-51.5），类型为 2、3 或 4。身体成分通过生物电阻抗法测量。抽取清晨血样检测糖化血红蛋白（HbA1c）、血脂谱、睾酮、皮质醇和胰岛素样生长因子-1（IGF-1）。在 75g 口服葡萄糖耐量试验期间测量血糖、胰岛素和β-羟丁酸（BHB）。计算稳态模型评估的胰岛素抵抗指数。
总共 75.9%的患者脂肪量（FM）增加，尽管体重指数正常，但仍有 51.7%的患者 FM 增加。运动能力是身体成分的最重要区分因素。93.1%的患者存在代谢异常，包括高血糖、胰岛素抵抗和血脂异常。超过三分之一的患者存在 BHB 升高，这是酮症的标志物。一半的男性患者存在功能性性腺功能减退。睾酮和 IGF-1 与 FM 呈负相关。
SMA 成年患者存在异常的身体成分和高度普遍的代谢紊乱，这可能会增加心血管代谢风险。由于治疗已经改变了 SMA 的病程，因此研究这些观察结果是否转化为临床相关的结果非常重要。
