Liu Xin-Yi, Wang Zhi-Qiang, Wang Dan-Ni, Lin Min-Ting, Wang Ning
Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University; Fujian Key Laboratory of Molecular Neurology, Fuzhou, Fujian 350005, China.
Chin Med J (Engl). 2016 Jan 20;129(2):142-6. doi: 10.4103/0366-6999.173438.
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common type of lipid storage myopathies in China. Most patients with late-onset MADD are well responsive to riboflavin. Up to now, these patients are often treated with glucocorticoids as the first-line drug because they are misdiagnosed as polymyositis without muscle biopsy or gene analysis. Although glucocorticoids seem to improve the fatty acid metabolism of late-onset MADD, the objective evaluation of their rationalization on this disorder and comparison with riboflavin treatment are unknown.
We performed a historical cohort study on the efficacy of the two drugs among 45 patients with late-onset MADD, who were divided into glucocorticoids group and riboflavin group. Detailed clinical information of baseline and 1-month follow-up were collected.
After 1-month treatment, a dramatic improvement of muscle strength was found in riboflavin group (P < 0.05). There was no significant difference in muscle enzymes between the two groups. Significantly, the number of patients with full recovery in glucocorticoids group was less than the number in riboflavin group (P < 0.05). On the other hand, almost half of the patients in riboflavin group still presented high-level muscle enzymes and weak muscle strength after 1-month riboflavin treatment, meaning that 1-month treatment duration maybe insufficient and patients should keep on riboflavin supplement for a longer time.
Our results provide credible evidences that the overall efficacy of riboflavin is superior to glucocorticoids, and a longer duration of riboflavin treatment is necessary for patients with late-onset MADD.
晚发型多种酰基辅酶A脱氢酶缺乏症(MADD)是中国最常见的脂质贮积性肌病类型。大多数晚发型MADD患者对核黄素反应良好。到目前为止,这些患者常被误诊为多发性肌炎而未进行肌肉活检或基因分析,因此常将糖皮质激素作为一线药物进行治疗。尽管糖皮质激素似乎能改善晚发型MADD的脂肪酸代谢,但其对该疾病治疗合理性的客观评估以及与核黄素治疗的比较尚不清楚。
我们对45例晚发型MADD患者进行了一项关于这两种药物疗效的历史性队列研究,将患者分为糖皮质激素组和核黄素组。收集了基线和1个月随访时的详细临床信息。
治疗1个月后,核黄素组患者肌力有显著改善(P<0.05)。两组肌肉酶水平无显著差异。值得注意的是,糖皮质激素组完全康复的患者数量少于核黄素组(P<0.05)。另一方面,核黄素组近一半患者在接受1个月核黄素治疗后仍存在肌肉酶水平高和肌力弱的情况,这意味着1个月的治疗时间可能不足,患者应继续补充核黄素更长时间。
我们的结果提供了可靠证据,表明核黄素的总体疗效优于糖皮质激素,晚发型MADD患者需要更长时间的核黄素治疗。