SOME PEOPLE’S BRAINS MAKE IT HARD TO FOCUS ON ANYTHING ELSE.
Rare genetic variants can result in dysfunctional regulation of hunger, causing patients to be insatiably hungry and leading to early-onset, severe obesity.1,3
Rare genetic variants can cause severe obesity
Several rare disorders of obesity are caused by genetic variants that lead to dysfunction within a key pathway responsible for regulating hunger (MC4R pathway).3,4
Dysfunction in a key pathway that regulates hunger
Dysfunction within the MC4R pathway is implicated in several rare genetic disorders of obesity, including LEPR and POMC deficiencies as well as Prader-Willi syndrome (PWS).3,5
Dysfunction within the MC4R pathway is implicated in several rare genetic disorders of obesity, including LEPR and POMC deficiencies as well as Prader-Willi syndrome (PWS).3,5
Unique Symptoms:
Early-onset obesity & insatiable hunger
Rare genetic disorders of obesity are different from other, more common forms of obesity in that they are characterized by early-onset, severe obesity and often associated with insatiable hunger (hyperphagia).3
Rare genetic disorders of obesity are different from other, more common forms of obesity in that they are characterized by early-onset, severe obesity and often associated with insatiable hunger (hyperphagia).3
A spectrum of rare disorders
Although rare genetic disorders of obesity have common features (such as insatiable hunger), each disorder has a distinct clinical phenotype.1-3
Although rare genetic disorders of obesity have common features (such as insatiable hunger), each disorder has a distinct clinical phenotype.1-3
Options for diagnosing suspected cases
Advancements in genetic screening for confirming suspected rare genetic disorders of obesity have only recently become available to clinicians.3,6
Advancements in genetic screening for confirming suspected rare genetic disorders of obesity have only recently become available to clinicians.3,6
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- Styne D, Arslanian S, Connor E, et al. Pediatric obesity—assessment, treatment, and prevention: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2007;102(3);709-757.
- Adan RAH, Hillebrand TJJG, la Fleur SE, Kas MJH, de Krom M. The MC4 receptor and control of appetite. B J Pharmacol. 2006;149(7):815-827.
- Huvenne H, Duberne B, Clément K, Poitou C. Rare genetic forms of obesity: clinical approach and current treatments in 2016. Obes Facts. 2016;9(3):158-173.
- Ellacott KL, Cone RD. The role of the central melanocortin system in the regulation of food intake and energy homeostasis: lessons from mouse models. Philos Trans R Soc Land B Biol Sci. 2006;361(1471):1265-1274.
- Ayers KL, Glicksberg BS, Garfield AS, et al. Melanocortin 4 receptor pathway dysfunction in obesity: patient stratification aimed at MC4R agonist treatment. J Clin Endocrinol Metab. 2018;103(7):2601-2612.
- da Fonseca ACP, Mastronardi C, Johar A, Arcos-Burgos M, Paz-Filho G. Genetics of non-syndromic childhood obesity and the use of high-throughput DNA sequencing technologies. J Diabetes Complications. 2017;102(3):709-757.