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.

Rhythm Roundup

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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