While there’s currently no cure for BBS, many treatment options are available to help manage the symptoms. Planning ahead for supportive services can also help you maintain your quality of life.
Bardet-Biedel syndrome (BBS) is a complex disorder leading to a wide array of symptoms and complications. Among these, eye problems, obesity, polydactyly (extra digits), kidney problems, reproductive issues, and intellectual impairment are the most common.
However, every person living with BBS has a different experience. Some will only have a few of these symptoms, while others may have different and less common effects.
BBS is a genetic disorder, and there’s currently no cure. The primary goal of treatment is the management of symptoms to improve quality of life and reduce the likelihood of additional complications.
Since so many organ systems are involved, a variety of specialists may be responsible for caring for people with BBS, including an ophthalmologist, endocrinologist, and nephrologist. Other specialists — such as genetic counselors, special education specialists, and mental health professionals — can also help people navigate life with BBS.
Read on to learn more about treatment options for managing symptoms of BBS.
A variety of different symptoms with BBS may be managed with medications. For instance, medication may be needed to help manage kidney or heart disease in people with these complications, which tend to be the
Other medications may be used to help manage:
- pubertal development (hormone therapy)
- high blood pressure
- type 2 diabetes
- thyroid disease
In 2022, the Food and Drug Administration (FDA) approved the first medication specifically for weight management in adults and children 6 years of age or older with BBS-associated obesity. This medication, setmelanotide (Imcivree), is taken as a daily injection and helps to promote weight loss by reducing food intake and increasing the rate at which calories are burned.
In a
Among those with BBS in the trial, nearly
Most side effects with setmelanotide in this trial were mild and short-lived. The most common side effects were skin hyperpigmentation (darkening), injection site reactions, and nausea.
For vision problems associated with BBS, there are no medications available to slow or prevent them from getting worse. Vitamin A deficiency may contribute to additional visual problems, though, so vitamin A supplements may be recommended to help prevent this.
Before starting any new medications, vitamins, or supplements, be sure to talk with your healthcare team to identify any potential interactions or safety concerns.
Surgery may be needed or recommended to correct a variety of anatomical anomalies BBS causes, including:
- polydactyly (extra fingers or toes)
- abnormalities of the genitals or urinary tract
- congenital heart defects
- dental overcrowding
In some cases, surgery may also be used to treat end-stage kidney disease, obesity, or cataracts.
People with BBS are more likely to have structural abnormalities that can make it harder to keep the airways open during surgery. This can make the process more complicated. Before surgery is done, your doctor may order imaging to assess whether it’s safe to use general anesthesia, which requires people to be intubated to support breathing.
If your surgeon thinks general anesthesia is too risky, they may opt to use local anesthesia instead, which allows you to stay awake and breathe on your own during surgery.
Lifestyle interventions such as dietary changes and physical activity can’t reverse or prevent the symptoms of BBS, but they can help manage their impact to prevent or delay further complications.
In addition to obesity, healthcare teams may provide special dietary recommendations to help prevent complications from kidney disease, which can affect the way your body processes food. Food waste products can build up when kidney function is impaired, which can affect other body systems like the heart and blood vessels.
A nephrologist or nutritionist can help provide recommendations for a kidney and heart-friendly diet, which typically involves limiting sodium (salt) and protein intake. In later stages of kidney disease, other nutrients may need to be restricted or supplemented as well.
Among people with obesity, dietary and exercise interventions may also be recommended to prevent associated complications, such as diabetes, hypertension, metabolic disease, and heart disease.
You may need a variety of support services to help manage the effects of BBS symptoms, especially as your condition progresses.
If you experience vision loss, you may need special glasses or contacts early on in the course of the disease to help address the specific vision problems that develop with BBS. As vision loss worsens, additional supportive resources or tools will likely be needed. Specialists such as occupational therapists can help prepare for these changes before they occur.
Other specialists, such as physiotherapists, special education specialists, and speech therapists can also help people with cognitive effects from BBS. Although most of these effects are mild, they can impact your ability to function without support in school, at work, or at home.
Early intervention — even before serious issues develop — offers the best opportunity to minimize or delay the impact of BBS. Connecting with professionals who provide support services early can help you and your family prepare for changes to come.
BBS is a rare, inherited genetic disorder. Although there’s currently no treatment that targets the underlying cause of the condition, there are many treatment options that can help you manage the symptoms and reduce their impact on your daily living and overall health.
Because BBS affects so many organ systems, you will need a multidisciplinary team to effectively care for your condition. A primary care professional can help with coordinating specialist referrals and care plans. They can also provide resources for support services to help you and your family navigate life with this condition.