Bardet-Biedl syndrome (BBS) is a rare genetic disease1
Obesity and hyperphagia are highly prevalent in BBS1-3
- Estimated prevalence (US): 1500-2500*
- BBS is part of a class of disorders called ciliopathies (impairment of cilia function in cells)4
- Cilia are hairlike projections that play a role in the regulation of several biological processes, including satiety signaling4
- Speech delay
- Developmental delay
- Diabetes mellitus
- Congenital heart disease
- Dental anomalies
- Brachydactyly/syndactyly
- Ataxia/poor coordination
- Anosmia/hyposmia
Consider the complete patient presentation and use your clinical judgment to diagnose BBS
*Estimated prevalence of US patients based on company estimates.
Hyperphagia is a hallmark of BBS that can intensify physical and mental challenges for patients and caregivers3,10
Hyperphagia often has an early onset, typically by age 53
- 91% of caregivers of children with BBS reported increased interest in food before age 53
- Patients with BBS who experience hyperphagia may:
- Take a longer time to feel full while eating
- Feel hungry again right after a meal
Dimensions of hyperphagia10
Excessive food-seeking behavior
—Individual living with BBS11
Preoccupation with food
—Caregiver of a child living with BBS11
Impact on daily activities
—Caregiver of a child living with BBS11
Obesity is common in BBS and can seriously impact overall health1,5,7,12
As many as 9 out of 10 patients with BBS are affected by obesity1
- Severe obesity has an early onset, typically beginning in childhood by age 5, and persists into adulthood7
- The risks associated with obesity accumulate over the lifespans of patients with BBS5,7
Obesity in patients with BBS can cause and/or accelerate comorbidities, including1,5,7,12-15
- Diabetes
- Renal impairment
- Hypertension