Management of Obesity-Related Genetic Disorders

• Esbati, Romina ^[2] ; Yazdani, Omid ^[3] ; Simonetti, Juliana ^[1]
  1. [1] University of Utah

     University of Utah

     Estados Unidos

     
  2. [2] Department of Medicine, Division of Endocrinology, Diabetes and Hypternsion, Brigham and Women’s Hospital, Boston, MA 02115, USA
  3. [3] Department of Medicine, Division of Gastroenterology, Hepatology and Endoscopy, Brigham and Women’s Hospital, Harvard Medical University, Boston, MA 02115, USA;

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• Localización: Endocrinology and metabolism clinics of North America, ISSN 0889-8529, Vol. 54, Nº. 1, 2025, págs. 17-18
• Idioma: inglés
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• Resumen

  • Rare genetic variants like POMC, LEPR, and PCSK1 deficiencies disrupt MC4R pathway signaling, leading to severe early-onset obesity, extreme hyperphagia, and a heightened risk of metabolic comorbidities. Patients with BBS also experience severe early-onset obesity and hyperphagia, partially due to impaired MC4R signaling. These genetic obesity conditions place a significant burden on patients and caregivers, negatively affecting quality of life and long-term health. Setmelanotide has been shown