Das Bardet-Biedl-Syndrom

Bardet-Biedl syndrome (BBS) is a rare multisystemic disorder caused by variants of currently 26 different genes. Depending on the severity of the different symptoms, the diagnosis is often delayed. Patients are cared for by (pediatric) endocrinologists and nephrologists as well as ophthalmologists. One of the most common symptoms is obesity, which carries the risk of long-term morbidity due to metabolic and cardiovascular sequelae.

This article aims to provide the most important knowledge on the pathogenesis, diagnosis and treatment of BBS condensed by an interdisciplinary team of authors.

The most recent knowledge important for patient care is presented based on a comprehensive review of study results and own experiences.

In the treatment of renal involvement of BBS, renal replacement therapy may become necessary, which is important in terms of morbidity and mortality. Retinal degeneration, endocrine disorders, developmental retardation and other symptoms require multidisciplinary management. Recent studies have shown that the pathomechanism of obesity in BBS is due to a lack of satiety caused by a disorder of hypothalamic appetite regulation, resulting in pronounced hyperphagia. For the first time, targeted treatment of obesity with a new melanocortin 4 (MC4) receptor agonist is now available. This can lead to a significant improvement in metabolic function and thus to an improvement in the health prognosis and quality of life of those affected.

Due to the multisystemic involvement in BBS, interdisciplinary care is necessary. The new treatment option for obesity with setmelanotide should be carried out with appropriate quality assurance.