Leptin receptor (LEPR) deficiency is a rare genetic disorder that affects the body's ability to regulate appetite and weight. For patients and their families, the disorder seriously disrupts daily life; however, little is published about this impact. We here report the experiences of a 10.5-year-old girl with leptin receptor deficiency and her family. The diagnosis of this rare genetic obesity had a deep impact on the life of the child and her family. It led to a better understanding of the cause of the impaired appetite regulation and early-onset obesity with subsequently less judgement by others and improved cooperation of their social network and school on maintaining a healthy lifestyle for this girl. A strict eating regimen and lifestyle measures resulted in the first year after diagnosis in a significantly decreased body mass index (BMI), followed by BMI stabilization, still categorized as obesity class three. However, the troublesome challenge of how to manage the disruptive behaviour due to hyperphagia remained. Eventually, due to treatment with targeted pharmacotherapy, i.e., melanocortin-4 receptor agonists, her BMI continued to decrease due to resolving hyperphagia. The daily routine of the family and the atmosphere at home positively changed as they were no longer dominated by the food-focused behaviour of the child and the adherence to the strict eating regimen. This case report demonstrates the importance and impact of a rare genetic obesity disorder diagnosis in a family. Additionally, it highlights the value of genetic testing in patients with a high suspicion of a genetic obesity disorder as it can eventually lead to personalized treatment, such as guidance by specialized healthcare professionals and educated caregivers or targeted pharmacotherapy.

中文翻译：

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瘦素受体缺乏症患者的叙述：罕见遗传性肥胖症的个性化医疗。

瘦素受体 (LEPR) 缺陷是一种罕见的遗传性疾病，会影响身体调节食欲和体重的能力。对于患者及其家人来说，这种疾病严重扰乱了日常生活；然而，关于这种影响的报道却很少。我们在此报告一名患有瘦素受体缺乏症的 10.5 岁女孩及其家人的经历。这种罕见的遗传性肥胖症的诊断对孩子及其家人的生活产生了深远的影响。它使人们更好地了解食欲调节受损和早发性肥胖的原因，从而减少了其他人的判断，并改善了社交网络和学校的合作，以维持该女孩的健康生活方式。严格的饮食习惯和生活方式措施导致诊断后第一年体重指数 (BMI) 显着下降，随后 BMI 稳定，仍被归类为肥胖三级。然而，如何管理因暴食引起的破坏性行为这一棘手的挑战仍然存在。最终，由于采用了靶向药物治疗，即黑皮质素-4受体激动剂，她的体重指数因食欲过盛问题而持续下降。家庭的日常生活和家庭气氛发生了积极的变化，因为他们不再受孩子以食物为中心的行为和严格饮食习惯的约束。本病例报告展示了罕见遗传性肥胖症诊断在家庭中的重要性和影响。此外，它还强调了基因检测对于高度怀疑患有遗传性肥胖症的患者的价值，因为它最终可以带来个性化治疗，例如专业医疗保健专业人员和受过教育的护理人员的指导或有针对性的药物治疗。