Science-based information about Melanocortin-4 Receptor Pathway
Would you recognize the cardinal symptoms of hyperphagia and early-onset severe obesity in your patients?
If you see them in your patients, they may be living with a rare MC4R pathway disease. To find out more about the steps from diagnosis to ongoing management for someone who may be living with a rare MC4R pathway disease, click here.
Shorter duration of satiety
Excessive food-seeking behaviours (night eating, stealing food, foraging for food in trash)
Longer time to reach satiety
Heightened and prolonged hunger
Significant distress and inappropiate response if denied food
Severe preoccupation with food
Early-onset severe obesity:
A BMI curve well above reference percentiles, as shown on the graph below
Adapted from Kohlsdorf et al, 2018
Learn more about the cardinal symptoms of rare melanocortin-4 receptor (MC4R) pathway diseases
Dr Ashley Shoemaker, Vanderbilt University Medical Center and Dr Ilene Fennoy, New York-Presbyterian Hospital/Columbia University Medical Center explain more about the clinical presentation of the cardinal symptoms of rare MC4R pathway diseases, hyperphagia and early-onset severe obesity. Including key signs, symptoms and cues to look for during a consultation.
Prompt observation, genetic testing and diagnosis of people living with rare melanocortin-4 receptor (MC4R) pathway diseases can help ensure optimal outcomes.
Learn more about the critical pathway steps in clinical presentation, diagnosis, genetic confirmation, management, and care of people with suspected rare MC4R pathway diseases.
Science in the field of rare MC4R pathway diseases
Rhythm is committed to ensuring that as much cutting-edge research is available to the community in as many accessible formats as possible. That is why we will be producing short, animated summary videos focussing on the latest relevant research.
The first animation focuses on rare genetic causes of obesity: diagnosis and management in clinical care.
Dubern B, Mosbah H, Pigeyre M, Clement K, Poitou C, Annales d’Endocrinologie (2021)
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