Musso Carla, Major Maria Laura, Andres Eugenia, Simha Vinaya
Department of Endocrinology, Hospital Francés, Buenos Aires, Argentina.
Hospital Municipal Materno Infantil de San Isidro, Buenos Aires, Argentina.
Clin Med Insights Case Rep. 2017 Jan 5;9:123-127. doi: 10.4137/CCRep.S40196. eCollection 2016.
Generalized lipodystrophy (GL) is a rare inherited or acquired disease characterized by widespread loss of subcutaneous fat, leading to leptin deficiency, ectopic fat deposition, and severe metabolic abnormalities. Previous studies have shown the benefit of leptin replacement (metreleptin) in ameliorating metabolic complications, but little is known about the experience of metreleptin treatment outside of a research setting. We report on post-marketing clinical experience with metreleptin therapy in three patients with GL and marked hypoleptinemia, uncontrolled diabetes, and hypertriglyceridemia. After metreleptin treatment for 12-168 weeks, the mean glycated hemoglobin decreased from 10.9% to 5.8%, and serum triglycerides were normalized (a mean decline of 90%). These benefits were observed within weeks of starting therapy, were durable, and were accompanied by subjective improvements in quality of life, decreased need for concomitant medications, and no significant adverse effects. Metreleptin was safe and effective in normalizing certain severe metabolic abnormalities in the clinic setting.
全身性脂肪营养不良（GL）是一种罕见的遗传性或获得性疾病，其特征是皮下脂肪广泛缺失，导致瘦素缺乏、异位脂肪沉积和严重的代谢异常。先前的研究表明，瘦素替代疗法（美曲普明）在改善代谢并发症方面具有益处，但对于研究环境之外的美曲普明治疗经验知之甚少。我们报告了三名患有GL、明显低瘦素血症、未控制的糖尿病和高甘油三酯血症患者接受美曲普明治疗的上市后临床经验。在接受美曲普明治疗12 - 168周后，平均糖化血红蛋白从10.9%降至5.8%，血清甘油三酯恢复正常（平均下降90%）。这些益处从开始治疗后的几周内就可以观察到，且持续存在，同时伴有生活质量的主观改善、对联合用药需求的减少，并且没有明显的不良反应。在临床环境中，美曲普明在使某些严重代谢异常恢复正常方面是安全有效的。
