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The Narrative of a Patient with Leptin Receptor Deficiency: Personalized Medicine for a Rare Genetic Obesity Disorder.
- Source :
-
Obesity facts [Obes Facts] 2023; Vol. 16 (5), pp. 514-518. Date of Electronic Publication: 2023 Jul 01. - Publication Year :
- 2023
-
Abstract
- 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.<br /> (© 2023 The Author(s). Published by S. Karger AG, Basel.)
- Subjects :
- Humans
Child
Female
Receptors, Leptin genetics
Obesity complications
Obesity genetics
Obesity drug therapy
Hyperphagia complications
Hyperphagia genetics
Body Mass Index
Leptin therapeutic use
Receptor, Melanocortin, Type 4 genetics
Receptor, Melanocortin, Type 4 agonists
Precision Medicine
Metabolism, Inborn Errors
Subjects
Details
- Language :
- English
- ISSN :
- 1662-4033
- Volume :
- 16
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Obesity facts
- Publication Type :
- Report
- Accession number :
- 37393902
- Full Text :
- https://doi.org/10.1159/000531529