肥胖是非常普遍的并且伴随着严重的健康负担。在少数,存在遗传原因,通常会导致对治疗有抵抗力的肥胖。利拉鲁肽是一种胰高血糖素样肽-1(GLP-1)类似物,这对普通肥胖症的饱腹感和体重有有益的影响。我们介绍了GLP-1类似物在具有超重或肥胖的分子遗传原因的成年人中的作用。所有患者每天服用利拉鲁肽3.0mg,除了强化支持性生活方式治疗。人体测量学,代谢参数,静息能量消耗(REE),副作用,并对主观报告的饱腹感和生活质量进行评估。治疗了两名16p11.2缺失综合征患者和两名杂合子致病性黑皮质素4受体变体患者。在基线,他们的年龄在21~32岁之间,体重指数(BMI)在28.1~55.7kg/m2之间.在随访时(范围为43周-12年),BMI和腰围的平均变化为-5.7±3.8kg/m2和-15.2±21.1cm,分别。所有患者体重下降≥5%,其中三人减重≥10%。所有患者均报告生活质量改善,其中三人报告饱腹感改善。此外,观察到血糖控制和血脂异常的改善。在两个病人中,测量治疗前和治疗期间的REE,它要么增加(+26%的预测REE),要么减少(-18%的预测REE)。两名患者经历了短暂的轻微副作用。总之,我们的病例系列显示了GLP-1类似物对体重的有益作用,4例遗传性肥胖患者的代谢指标和生活质量.
Obesity is highly prevalent and comes with serious health burden. In a minority, a genetic cause is present which often results in therapy-resistant obesity. Liraglutide is a glucagon-like peptide-1 (GLP-1) analogue, which has beneficial effects on
satiety and weight in common obesity. We present the effects of GLP-1 analogues in adults with a molecularly proven genetic cause of their overweight or obesity. All patients were treated with liraglutide 3.0 mg daily, in addition to intensive supportive lifestyle treatment. Anthropometrics, metabolic parameters, resting energy expenditure (REE), side effects, and subjectively reported
satiety and quality of life were assessed. Two patients with 16p11.2 deletion syndrome and two patients with heterozygous pathogenic melanocortin-4 receptor variants were treated. At baseline, their age ranged between 21 and 32 years and body mass index (BMI) ranged between 28.1 and 55.7 kg/m2 . At follow-up (ranges 43 weeks-12 years), a mean change in BMI and waist circumference was observed of -5.7 ± 3.8 kg/m2 and -15.2 ± 21.1 cm, respectively. All patients achieved ≥5% weight loss, three of them lost ≥10% of their body weight. All patients reported improved quality of life and three of them reported ameliorated
satiety. Moreover, improvement of glycaemic control and dyslipidaemia were seen. In two patients, REE before and during treatment was measured, which either increased (+26% of predicted REE) or decreased (-18% of predicted REE). Two patients experienced mild side effects for a brief period. In conclusion, our
case series shows beneficial effects of GLP-1 analogues on weight, metabolic parameters and quality of life in all four patients with genetic obesity.