Do you have patients with severe, early-onset obesity who experience hyperphagia? Patients who demonstrate a severe preoccupation with food and excessive food-seeking behaviour?

It could be a rare genetic disease of the MC4R pathway.

Here you can learn more about the melanocortin-4 receptor (MC4R) pathway, how it regulates hunger, how a disruption in this pathway causes rare diseases of obesity, and how these diseases are diagnosed and managed.

Rare MC4R pathway diseases of obesity, such as Bardet-Biedl syndrome (BBS), pro-opiomelanocortin (POMC) deficiency, proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency, and leptin receptor (LEPR) deficiency can be caused by genetic variants within the MC4R pathway (part of the central melanocortin pathway). These changes can impair signalling in the pathway that controls hunger and can be a root cause of increased appetite and body weight.¹

To accurately diagnose and care for those possibly living with a rare MC4R pathway disease of obesity, it is crucial to undertake a detailed observation of the patient and gain confirmation of any underlying genetic cause.