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Welcome to Path4HCPs

Science-based information about the melanocortin-4 receptor pathway

Jump to read about the melanocortin-4 receptor (MC4R) pathway

Welcome to path4HCPs

Here you can learn more about rare melanocortin-4 receptor (MC4R) pathway diseases, their diagnosis and management.

These variants 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, it is crucial to undertake a detailed observation of the patient and gain confirmation of any underlying genetic cause.

A proper understanding of a root cause of the disease allows for appropriate management and care of patients.1

Here you can find information about rare MC4R pathway diseases.

Identification and diagnosis

Hyperphagia and early-onset, severe obesity in Bardet-Biedl syndrome is a Growing Concern

For patients living with rare MC4R pathway diseases, time is ticking. Take action and learn more about genetic testing and early diagnosis.

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Hyperphagia and early-onset, severe obesity are cardinal symptoms of rare MC4R pathway diseases

Hyperphagia (pathological, insatiable hunger) is characterised by an overwhelming, heightened, and relentless hunger, a longer time to reach satiety, a shorter duration of satiety, and, potentially, extreme food-seeking behaviours such as waking up at night to find food. Hyperphagia leads to excess energy intake, which contributes to obesity.2,3  

Early-onset, severe obesity (presence before age 5, and BMI ≥120% of the 95th percentile for age and sex) results from factors that disrupt the balance of energy intake (food consumption) and energy expenditure (metabolic rate, thermogenesis, and physical activity). While many environmental factors can influence this balance, our genes also significantly define our body weight. Research has shown that some naturally arising genetic variants are associated with obesity.1,3,4

Learn more about the cardinal symptoms of rare 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. They discuss key signs, symptoms and cues to look for during a consultation.

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References:

  1. 1. Yazdi F, et al, PeerJ, 2023;3:e856.
  2. 2. Heymsfield SB, et al. Obesity (Silver Spring). 2014;22:S1‒S17.
  3. 3. Hampl SE, et al. Pediatrics. 2023;151:e2022060640.
  4. 4. Fonseca ACP, et al. J Diabetes Complications. 2017;31:1549–1561.