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.1,2
RARE GENETIC DISORDERS OF OBESITY
SEVERAL CAUSED BY IMPAIRMENT IN KEY HUNGER PATHWAY1
Several rare genetic disorders of obesity are caused by genetic variants in a key neurosignaling pathway responsible for regulating hunger (the MC4R pathway). Impaired signaling can lead to insatiable hunger (hyperphagia) and early onset of severe obesity.1,3
Several rare genetic disorders of obesity are caused by genetic variants in a key neurosignaling pathway responsible for regulating hunger (the MC4R pathway). Impaired signaling can lead to insatiable hunger (hyperphagia) and early onset of severe obesity.1,3
Numerous Rare Genetic Disorders Of Obesity Have Been Described2,4-6
More than 20 distinct rare genetic disorders of obesity have been described, and several may have impaired MC4R pathway signaling, such as:
- Bardet-Biedl syndrome
- Alström syndrome
- MC4R deficiency
- Leptin deficiency
- LEPR deficiency
- POMC deficiency
More than 20 distinct rare genetic disorders of obesity have been described, and several may have impaired MC4R pathway signaling, such as:
- Bardet-Biedl syndrome
- Alström syndrome
- MC4R deficiency
- Leptin deficiency
- LEPR deficiency
- POMC deficiency
Common Symptoms
Early-onset, Severe Obesity & Insatiable Hunger
Each rare disorder has a distinct clinical presentation, but early onset of severe obesity and insatiable hunger (hyperphagia) are common symptoms of those involving the MC4R pathway. These hallmark symptoms are not typically associated with more common forms of obesity.1,2
Each rare disorder has a distinct clinical presentation, but early onset of severe obesity and insatiable hunger (hyperphagia) are common symptoms of those involving the MC4R pathway. These hallmark symptoms are not typically associated with more common forms of obesity.1,2
Genetic Testing Can Aid In Diagnosis
Genetic testing can play an important role in diagnosing many rare genetic disorders of obesity, however some can be diagnosed by clinical features alone. Genetic test results should be evaluated based on clinical presentation.
Genetic testing can play an important role in diagnosing many rare genetic disorders of obesity, however some can be diagnosed by clinical features alone. Genetic test results should be evaluated based on clinical presentation.
Rhythm Is Dedicated To Expanding Access To Genetic Testing
Rhythm is proud to sponsor the first and only free* genetic testing program to help identify individuals with rare genetic disorders of obesity.
*Covers cost of testing only—excludes office visit, sample collection, or any other related costs to patient.
Rhythm is proud to sponsor the first and only free* genetic testing program to help identify individuals with rare genetic disorders of obesity.
*Covers cost of testing only—excludes office visit, sample collection, or any other related costs to patient.
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- 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.
- Styne DM, Arslanian SA, Connor EL, et al. Pediatric obesity – assessment, treatment, and prevention: An Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2007;102(3);709-757.
- 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.
- Kaur Y, de Souza RJ, Gibson WT, Meyre D. A systematic review of genetic syndromes with obesity. Obes Rev. 2017;18(6):603-634.
- Dubern B, Tounian P, Clément K. Obesity. In: Weiss RE, Refetoff S, eds. Genetic Diagnosis of Endocrine Disorders. 1st ed. New York, NY: Elsevier; 2010:27-38.
- Eneli I, Xu J, Webster M, et al. Tracing the effect of the melanocortin-4 receptor pathway in obesity: study design and methodology of the TEMPO registry. Appl Clin Genet. 2019;12:87-93.