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Bardet-Biedl Syndrome (BBS): Understanding the Rare Genetic Disorder
AmbitCare
July 19, 2023
Learn about the symptoms, genetic causes, and impact of Bardet-Biedl syndrome (BBS), a rare genetic disorder affecting multiple organ systems. Explore the importance of early diagnosis and available treatment options for individuals with BBS.
Introduction:
Learn about the rare genetic disorder known as Bardet-Biedl syndrome (BBS) and its impact on multiple organ systems. Understanding the symptoms, genetic causes, and available treatment options is crucial for individuals with BBS. This article provides essential insights into Bardet-Biedl syndrome to promote early diagnosis and appropriate management.
What is Bardet-Biedl Syndrome?
Bardet-Biedl Syndrome is an inherited disorder that affects various parts of the body. It is characterized by intense, hard-to-control hunger, obesity, visual impairment, kidney problems, extra fingers or toes (polydactyly), and learning disabilities. The severity and combination of symptoms can vary significantly between individuals, even within the same family.Genetic Causes of Bardet-Biedl Syndrome:
BBS is caused by genetic mutations in different genes. Over 20 genes have been associated with BBS, most of which play a role in the structure and function of cilia. Cilia are tiny, hair-like structures found on the surface of cells and are involved in various cellular processes. Mutations in BBS-related genes disrupt cilia function, leading to the diverse range of symptoms observed in individuals with BBS.Impact on Organ Systems:
Bardet-Biedl syndrome affects multiple organ systems in the body. Intense, hard-to-control hunger and obesity are common symptoms in BBS, contributing to various health complications. Visual impairments, such as retinal degeneration and night blindness, are common manifestations of BBS. Kidney abnormalities, including cysts and impaired kidney function, can lead to renal insufficiency or end-stage renal disease. The presence of extra fingers or toes, also called polydactyly, is a characteristic feature of BBS. Many individuals living with BBS experience learning disabilities, speech delay, or developmental delay.
Early Diagnosis and Treatment:
Early diagnosis of Bardet-Biedl syndrome is crucial for timely interventions and management. The complete clinical presentation, including comprehensive medical evaluations and genetic testing, help to inform a diagnosis of BBS. While there is no cure for BBS, treatment focuses on managing individual symptoms and providing supportive care. This may include medications and strategies to manage intense, hard-to-control hunger and obesity, vision aids, renal function monitoring, surgical interventions for polydactyly, and educational support for intellectual disability.
Conclusion:
Bardet-Biedl syndrome is a rare genetic disorder that impacts multiple organ systems. By understanding the symptoms, genetic causes, and associated complications of BBS, healthcare professionals, including obesity specialists, retinal specialists, nephrologists, endocrinologists, and primary care providers, can provide timely interventions and comprehensive care to individuals with this complex syndrome.
This blog post was developed by Ambit on behalf of Rhythm Pharmaceuticals, Inc.
You are not alone. A community and a treatment for obesity in individuals living with BBS are out there – find out more today.
The majority of individuals living with BBS experience intense, hard-to-control hunger contributing to obesity. There is an approved treatment that significantly reduced measures of weight and hunger in clinical trials in people living with BBS. Take the questionnaire to connect to educational resources.
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Disclaimer
Please note that AmbitCare provides this information for the benefit of the rare disease community. AmbitCare is not a medical provider nor a health care facility. AmbitCare can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Individuals must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure, or treatment of a condition or disorder.