At Patient Worthy, we are dedicated to the covering the latest stories about rare diseases that appear in the news cycle. While this is an important part of our mission and is central to our activities, the fact remains that there are thousands of rare diseases out there, and a lot of them don’t make the news on a regular basis.
Indeed, some rare diseases tend to get a lot of the spotlight in a field that is already lacking in awareness as a whole. Diseases that haven’t seen a lot of new research or drug development are often not part of out regular content. This can understandably leave patients with these illnesses feeling left out. We are trying to counter this trend with stories that discuss less well known diseases.
Today we will be talking about Bardet-Biedl syndrome. We have had a small number of stories on this disease before, but this article will help readers get a solid understanding of the fundamental facts of this disease.
Bardet-Biedl syndrome is a genetic disorder which has impacts on a number of body systems. The presentation of this disease varies, but it is often characterized by abdominal obesity, kidney problems, and intellectual disability.
The syndrome is linked to a number of mutations that may affect several genes. The mutations in a specific case have been confirmed to have some impact on the presentation of Bardet-Biedl syndrome. For example, the BBS1 mutation is associated with reduced impact on vision, whereas BBS2, BBS3, and BBS4 are associated with a steady decline in vision. Not all patients have had the genetic mutation responsible for their disease precisely identified. More research should be conducted to understand more clearly the differences that the causal mutation makes for the patient.
Symptoms that are associated with Bardet-Biedl syndrome include abdominal obesity, intellectual impairment, degeneration of the retina, problems with kidney function, hypogenitalism, infertility, and polydactyly (being born with an extra finger or toe). The obesity in this disease also carries with it many of the common health problems that are associated with non-genetic obesity, such as insulin resistance, diabetes, and cardiovascular problems. The degree of vision decline is highly variable but some patients do become legally blind. Many patients also have a reduced sense of smell.
Treating Bardet-Biedl Syndrome
There is no cure for Bardet-Biedl syndrome, so treatment is generally oriented towards the management of symptoms. A team of specialists is often necessary to manage the diverse manifestations of this disorder. Diet and exercise to manage weight is a critical component of treatment; kidney transplant may be necessary if kidney function declines severely. Surgery can also correct physical abnormalities and congenital heart defects. Regular check-ups regarding vision are also necessary as there are methods that can help patients slow their vision decline.