Updated criteria integrate clinical manifestations and genetic testing to reduce the time required to reach an informed diagnosis.
Rhythm Pharmaceuticals announced the publication of a new diagnostic algorithm for Bardet-Biedl syndrome (BBS) in the American Journal of Medical Genetics. The evidence-based, consensus-driven algorithm is designed to help healthcare practitioners reduce the time to an informed diagnosis.
The algorithm was developed by an international group of experts and patient advocacy organizations. The updated criteria reaffirm that a BBS diagnosis can be made clinically while providing guidance on how genetic testing can facilitate earlier diagnosis when clinical criteria are not yet fully met. This update builds upon the original Beales’ Criteria published in 1999 and incorporates advances in the understanding of the disease’s multisystem manifestations, clinical presentation, and progress in genetic testing.
“The original diagnostic criteria were pivotal in defining Bardet-Biedl syndrome over two decades ago; however, advances in our understanding of this disease now support a more practical and integrated approach,” says Philip Beales, emeritus professor of molecular genetics and genomic medicine at University College London and senior author on the publication, in a release. “This algorithm offers clearer guidance to support earlier diagnosis, which is essential for timely management and care.”
BBS is a rare autosomal recessive ciliopathy that is often difficult to recognize due to its progressive and variable presentation. Its multi-organ involvement frequently leads to significant delays in diagnosis. The new algorithm provides diagnostic pathways for all age groups and clinical presentations, outlining organ-specific manifestations based on prevalence data to assist multidisciplinary specialists.
“Early and accurate BBS diagnosis can make an enormous difference for affected families,” says Tim Ogden, executive director of the Bardet Biedl Syndrome Foundation and an author on the publication, in a release. “I know from personal experience that diagnosis opens the door to appropriate clinical care and support services, and better outcomes are possible the earlier that happens.”
According to a press release, at least 28 genes have been associated with BBS. Variants in genes encoding the complex of eight BBS proteins, known as the BBSome, can lead to dysfunction of the primary cilium. This dysfunction impairs leptin receptor trafficking and MC4R pathway signaling, which causes hyperphagia and early-onset obesity. BBS is estimated to affect approximately 4,000 to 5,000 people in the US and 4,000 to 5,000 people in Europe.
Next month, Brooke Sweeney, MD, professor of internal medicine/pediatrics and medical director of weight management at Children’s Mercy Kansas City, will present the updated algorithm at a summit in Chicago ahead of The Endocrine Society’s Annual Meeting.
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