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Rare genetic melanocortin 4 receptor (MC4R) pathway associated obesities can impose a significant burden on patients and their caregivers, especially due to associated hyperphagia. It was very obsessive the amount of thoughts about the timing of food.’’ — Parent of patient with BBS Rare Genetic MC4R Pathway Associated Obesities are not as Rare MC4R pathway-associated obesities associated with rare genetic variants are not as rare as you may believe. From a 2022 analysis of 11,671 patients who were genetically tested with a 79-genes and 1 chromosome genetic test panel that is reflective of nearly all of the most frequently tested genes associated with obesity found that 73.5% of individuals had at least 1 pathogenic variant, likely pathogenic variant or variant of uncertain significance. A June 2024 analysis of the same genetic testing program of 43,013 individuals (32% of whom were adults and 68% were children), found pathogenic/likely pathogenic variants identified in all age groups, including adult patients. 2 To learn more about how to identify rare genetic diseases of obesity, please visit https://uncoveringrareobesity.com/. When to Suspect Rare Genetic MC4R Pathway Associated Obesities While rare MC4R pathway diseases present with a variety of clinical characteristics depending on the gene involvement (i.e. possible red/orange hair in a Caucasian patient with POMC deficiency), there are two key clinical features common to many rare genetic MC4R pathway diseases: early-onset severe obesity and hyperphagia. How to Diagnose Rare Genetic MC4R Pathway Associated Obesities Experts consensus guidelines, including a Pediatric Obesity Algorithm by Dr. 2022, recommend genetic testing in patients that present with the following: the two cardinal symptoms (hyperphagia & severe obesity before the age of 5), a family history of notable weight differences between members, and other clinical characteristics of rare MC4R pathway diseases (i.e., neurological abnormalities, growth abnormalities, endocrine abnormalities). 3,4,7 Monogenic obesities such as those associated with genetic variants in POMC, PCSK1, LEPR or other genes can be diagnosed with genetic testing. Lindsay Fourman Register here Rhythm Medical Affairs LinkedIn: If you are a US-based healthcare professional who is interested in learning more about rare neuro-endocrine MC4R pathway diseases, please follow us on our LinkedIn Medical Affairs page.

This article reviews new perioperative guidance on GLP-1RA therapy, emphasizing a team-based approach to reduce surgical risks while supporting continuity of treatment for adolescents with obesity.

The Trump Administration has announced a proposed plan for a five-year pilot program that will allow patients with Medicare or Medicaid access to anti-obesity medications.

This article highlights how obesity in childhood can impair strength, balance, gait, and joint health, emphasizing the importance of routine neuromusculoskeletal screening to support early intervention and improve physical function.

Discover the most effective weight loss medications approved by the FDA. Comprehensive guide on safety, dosage, and efficacy for 2025.

We need an operation warp speed for obesity medicine. Healthcare systems , insurers, and employers are still falling short on our mission of radically changing what obesity looks like in the U.S. and providing access to the full suite of effective obesity treatment interventions including medications that are proven to help patients manage their condition.

At Lilly, we know healthcare providers are looking to us to deliver real medicine—medicine that has been rigorously trialed and tested and that has been manufactured in accordance with the highest standards for safety and quality.

This retrospective study found that in adolescents who had bariatric surgery, standard post-operative care plus early reinitiation of anti-obesity medication (AOM) led to greater weight loss and better eating behaviors than standard post-operative care alone.

Although cardiovascular disease remains a significant concern, many of its risk factors can be managed, and in some cases, even reversed. One of the most effective ways to support heart health is through weight loss.