Paris Public Hospitals, PRADORT Competence Centre, Department of Paediatric Nutrition and Gastroenterology, CHU Trousseau, Paris, France; Sorbonne University/INSERM, Research Unit: Nutrition and Obesities; Systemic Approaches, NutriOmics, Paris, France.
Paris Public Hospitals, Reference Centre for Rare Diseases PRADORT (PRADer-Willi Syndrome and other Rare Obesities with Eating Disorders), Nutrition Department, Pitié-Salpêtrière hospital, Paris, France.
Ann Endocrinol (Paris). 2022 Feb;83(1):63-72. doi: 10.1016/j.ando.2021.12.003. Epub 2021 Dec 23.
Rare genetic forms of obesity are linked to impaired energy balance (i.e., eating behaviour and energy expenditure) involving hypothalamic pathways. More than 60 genes coding for proteins located in the hypothalamic leptin/melanocortin pathway contribute to the development of these rare forms of obesity. The ambition of the French National Protocol for the Diagnosis and Care (PNDS) of Obesity of Rare Causes was to establish practical recommendations for assessment and management at all ages. This report is available on the website of the French Health Authority (HAS). In addition to severe obesity, patients often display obesity-related comorbidities and neuropsychological/psychiatric disorders. These complex conditions make clinical management particularly challenging. Early diagnosis is critical for the organization of coordinated specialized multidisciplinary care, with mandatory interaction between caregivers, social partners and families. Strategies to prevent aggravation of obesity consist in limiting access to food, establishing a reassuring daily eating environment, and the practice of sustained adapted supervised daily physical activity. The implementation of genetic diagnosis in clinical practice now enables a personalized medicine approach with access to new drug therapies, and improves the analysis of the risk/benefit ratio of bariatric surgery.
罕见的肥胖遗传形式与涉及下丘脑途径的能量平衡受损（即饮食行为和能量消耗）有关。超过 60 个编码位于下丘脑瘦素/黑素皮质素途径中的蛋白质的基因有助于这些罕见肥胖形式的发展。法国罕见肥胖原因的诊断和治疗国家方案 (PNDS) 的目标是制定适用于所有年龄段的评估和管理的实用建议。该报告可在法国卫生署 (HAS) 的网站上查阅。除了严重肥胖，患者通常还会出现与肥胖相关的合并症和神经心理/精神障碍。这些复杂的情况使得临床管理极具挑战性。早期诊断对于组织协调的专门多学科护理至关重要，护理人员、社会伙伴和家庭之间必须进行强制性互动。预防肥胖恶化的策略包括限制食物摄入、建立一个令人安心的日常饮食环境，以及持续进行适应性监督的日常体育锻炼。遗传诊断在临床实践中的实施现在可以采用个性化药物治疗方法，获得新的药物治疗，并改善肥胖症手术的风险/获益比分析。
