Consensus Statement Released on Bardet-Biedl Syndrome
A new consensus statement has been released, providing comprehensive guidelines for the diagnosis, management, and treatment of Bardet-Biedl Syndrome (BBS), a rare genetic disorder. This significant achievement is the result of a collaborative effort between four European Reference Networks (ERNs): ERN-EYE, Endo-ERN, ERN Ithaca and ERKNet. The statement, published in European Journal of Human Genetics, represents a unified approach to improving patient care across Europe and beyond.
BBS syndrome
BBS is an autosomal recessive ciliopathy with at least 26 genes identified to date. The clinical manifestations are pleiotropic, can be observed in utero and will progress with age. Genetic testing has progressively improved in the last years prompting for a revision of the diagnostic criteria taking into account clinical Primary and Secondary features, as well as positive or negative molecular diagnosis. This consensus statement also emphasizes on initial diagnosis, monitoring and lifelong follow-up, and symptomatic care that can be provided to patients and family members according to the involved care professionals.
Paediatry
For paediatricians, developmental anomalies can be at the forefront for diagnosis (such as polydactyly) but can require specific care, such as for associated neuro developmental disorders.
Ophthalmology
For ophthalmology, the early onset retinal degeneration requires ad hoc functional and imaging technologies and specific care for severe visual impairment.
Endocrinology
For endocrinology, among other manifestations, early onset obesity and its complications has benefited from better evaluation of eating behaviour problems, improved lifestyle programs, and from novel pharmacological therapies. Kidney and urinary track involvements warrants lifespan attention, as chronic kidney failure can occur and early management might improve outcome. This consensus recommends revised diagnostic criteria for BBS that will ensure certainty of diagnosis, giving robust grounds for genetic counselling as well as in the perspective of future trials for innovative therapies.
Read it now!
The full statement is accessible in the European Journal of Human Genetics, providing detailed recommendations that are expected to guide clinical practice and inspire future research in the field.