Saturday, July 29, 2023

Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS) is a rare genetic disorder that 9 out of 10 times causes obesity. It is rare because it is autosomal recessive, so both parents have to carry the recessive gene for a 25% chance their child could have BBS. More than 20 genes have been found to be associated with BBS. Only about 2500 people in the United States have BBS. A parent of a child with BBS explained how their child would eat so much, and sneak food so often that they had to put locks on their cabinets and fridge to keep their child out. It is a struggle because hunger is sometimes all that victims can think about, but the urge never goes away. Common symptoms across those with BBS include obesity (typically by age 5), hyperphagia, visual impairments, postaxial polydactyly, renal anomalies, diabetes, cognitive impairments, and more. The pathway that regulates hunger, satiety, and energy spent is the MC4R pathway. The pathway is activated by leptin, a neuro-signaling hormone from the adipose tissue. BBS genes help guide leptin to the POMC neurons, and without it, hunger, satiety, and energy cannot be controlled. Diet and exercise are not usually enough to treat BBS. IMCIVREE is a prescription medicine for people ages 6 years and older with obesity due to BBS. It helps them lose weight and keep weight off. Side effects of IMCIVREE include male and female sexual function problems. depression and suicidal thoughts, darkening moles, and benzyl alcohol toxicity.

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