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Bardet-Biedl syndrome
Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that affects many body systems. It is most known to be characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction
Prevalence
1-9 / 100 000
331-2,979
US Estimated
513-4,622
Europe Estimated
Age of Onset
ICD-10
Q87.8
Inheritance
This condition does not appear to have a clear pattern of inheritance.
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Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that affects many body systems. It is most known to be characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction
5 Facts you should know
FACT
Symptoms include retinal degeneration, obesity, reduced kidney function, and polydactyly
FACT
Patients with BBS can experience problems with obesity, specifically with fat deposition along the abdomen
FACT
BBS patients often experience hyperphagia - an abnormally strong, incessant sensation of hunger or desire to eat often leading to overeating
FACT
The melanocortin-4 receptor pathway (MC4R pathway) in the hypothalamus is responsible for regulating hunger, food intake, satiety, and energy expenditure
FACT
Impaired MC4R signaling can lead to early-onset, severe obesity and hyperphagia, irrespective of environmental and lifestyle factors
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Common signs & symptoms
The specific signs and symptoms of eosinophilic granulomatosis with polyangiitis vary from person to person depending on the organ systems involved. The severity, duration, and age of onset also vary. Eosinophilic granulomatosis with polyangiitis is considered to have three distinct phases prodromal (allergic), eosinophilic, and vasculitic which don't always occur sequentially. Some people do not develop all three phases.
The prodromal (or allergic) phase is characterized by
various allergic reactions. Affected people may develop asthma (including a cough, wheezing, and shortness of breath); hay fever (allergic rhinitis); and/or repeated episodes of sinusitis. This phase can last from months to many years. Most people develop asthma-like symptoms before any other symptoms.
The eosinophilic phase is characterized by
accumulation of eosinophils (a specific type of white blood cell) in various tissues of the body especially the lungs, gastrointestinal tract and skin.
The vasculitic phase is characterized by
widespread inflammation of various blood vessels (vasculitis). Chronic vasculitis can cause narrowing of blood vessels, which can block or slow blood flow to organs. Inflamed blood vessels can also become thin and fragile (potentially rupturing) or develop a bulge (aneurysm).
Current treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.
Mepolizumab(Brand name: Nucala)
Manufactured by GlaxoSmithKline LLC
FDA-approved indication: Treatment of adult patients with Eosinophilic Granulomatosis with Polyangiitis (EGPA).
National Library of Medicine Drug Information Portal
Medline Plus Health Information