Читать книгу Clinical Obesity in Adults and Children - Группа авторов - Страница 88

Whilst individually monogenic obesity disorders are rare, cumulatively, at least 20% of children with severe obesity have rare chromosomal abnormalities and/or highly penetrant genetic mutations that drive their obesity. This figure is likely to increase with wider accessibility to genetic testing and as new genes are identified. A genetic diagnosis can inform management (many such patients are relatively refractory to weight loss through changes in diet and exercise) and can inform clinical decision‐making regarding the use of bariatric surgery. Importantly, some genetic obesity syndromes are treatable [30, 31]. There are a number of drugs in clinical trials targeted specifically at patients with genetic obesity syndromes. Specifically, setmelanotide, an MC4R agonist has been used effectively in phase 2/3 clinical trials of POMC and LEPR deficiencies and is being explored for the treatment of other genetic obesity syndromes affecting the melanocortin pathway (including BBS). Ultimately, understanding how these pathways are disrupted in people with weight problems may inform strategies to target these pathways for prevention and treatment in the future.