Defining Hyperphagia for Improved Diagnosis and Management of MC4R Pathway-Associated Disease: A Roundtable Summary.

Beatrice Dubern, Peter Kühnen, Martin Wabitsch, Anthony P Goldstone, Christian L Roth, Steven B Heymsfield, Karine Clément, Andrea M Haqq, Jack A Yanovski, Jesse Richards, Erica L T van den Akker

Journal: Current obesity reports 2025;14(1):13

PMID: 39856371

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Abstract

PURPOSE OF REVIEW

Hyperphagia is a condition associated with rare obesity-related diseases, presenting as a pathologic, insatiable hunger accompanied by abnormal food-seeking behaviors. In October 2023, a group of researchers and clinicians with expert knowledge on hyperphagia convened at the annual ObesityWeek meeting to discuss the need for a unified definition of hyperphagia and key items necessary to improve the identification, assessment, and treatment of hyperphagia in patients with melanocortin 4 receptor (MC4R) pathway-associated diseases.

RECENT FINDINGS

The definition of hyperphagia proposed by this group is a pathologic, insatiable hunger accompanied by abnormal food-seeking behaviors. Suggested methods to accurately identify patients with hyperphagia include increased physician and parent/caregiver education and standardized efficient screening procedures for use in the clinic. The etiology of hyperphagia as related to abnormal MC4R signaling was also reviewed and proposed as a central cause of the condition across several underlying diseases. Given this potential unified underlying pathology, the expert group recommends that patients with hyperphagia undergo genetic testing and that treatment include comprehensive weight-management strategies incorporating lifestyle and pharmacotherapies targeted at addressing hyperphagia.

Address: Pennington Biomedical Research Center, Louisiana State University System, Baton Rouge, LA, USA. [email protected].; Pennington Biomedical Research Center, Louisianna State University, 6400 Perkins Rd, Baton Rouge, LA, 70808, USA. [email protected].; Nutrition Department, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France.; Sorbonne Université, Inserm, Nutrition and Obesities, Systemic Approaches, NutriOmique Research Group, Paris, France.; Sorbonne Université, Inserm, Nutrition and Obesities, Systemic Approaches, NutriOmique Research Group, Paris, France.; Sorbonne Université, Trousseau Hôpital, Assistance Publique-Hôpitaux de Paris, Paris, France.; PsychoNeuroEndocrinology Research Group, Division of Psychiatry, Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, UK.; Imperial Centre for Endocrinology, Imperial College Healthcare NHS Trust Hammersmith Hospital, London, UK.; Department of Pediatrics, Division of Pediatric Endocrinology, University of Alberta, Edmonton, AB, Canada.; Department of Pediatric Endocrinology and Diabetology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin und Humboldt-Universität zu Berlin, Berlin, Germany.; German Center for Child and Adolescent Health (DZKJ), Partner Site, Berlin, Germany.; Department of Internal Medicine, University of Oklahoma at Tulsa, Tulsa, OK, USA.; Seattle Children's Research Institute, Seattle, WA, USA.; Division of Endocrinology, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Erasmus University Medical Center, Rotterdam, The Netherlands.; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Ulm, Ulm, Germany.; German Center for Child and Adolescent Health (DZKJ), Partner Site, Ulm, Germany.; Section on Growth and Obesity, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

DOI: 10.1007/s13679-024-00601-z