Unusual Bardet-Biedl Syndrome Case Raises Questions About Cancer Risk

According to a story from Genetic Obesity News, the unusual case of a female Bardet-Biedl syndrome patient who also had endometrial cancer is causing researchers to wonder if the two diseases could be connected to one another. However, more research will be necessary before any conclusions can be made. A case report describes a 26 year old patient who presented with Bardet-Biedl syndrome, endometrial cancer, and hyperestrogenism (excessive estrogen).

About Bardet-Biedl Syndrome

Bardet-Biedl syndrome is a genetic disorder that presents a variety of symptoms throughout the body but is probably most characterized by obesity. The illness is caused by mutations affecting the BBS genes. The disease may vary in symptoms and progression depending on which mutation is present. Symptoms of Bardet-Biedl syndrome include obesity, polydactyly, kidney failure, retinitis pigmentosa, reduced or absent sense of smell, overeating, heart problems, fibrosis, hypogonadism, ataxia, cognitive impairment, diabetes and developmental delays. There is no cure for Bardet-Biedl syndrome and care is focused on treating the numerous and varied symptoms. Often an entire team of specialists and therapists may be necessary to manage different symptoms effectively. Approaches may include diet and life style changes, surgery, and a kidney transplant in cases of kidney failure. To learn more about Bardet-Biedl syndrome, click here.

Case Report

The case involved a Latina woman who was rushed to hospital with abnormal uterine bleeding, anemia, and indicators of hyperestrogenism. Doctors later learned that she began taking estrogen a week earlier after another emergency room visit. After being stabilized, further analysis revealed abnormalities of the endometrium, which is a layer of tissue that is found in the uterus. This was soon revealed to be endometrial carcinoma.

To treat the cancer, the woman underwent complete removal of her fallopian tubes and uterus. At this juncture, this is just one of a very small number of cases in which Bardet-Biedl syndrome and endometrial cancer have been found together. It is still unclear if the patient’s obesity or hyperestrogenism could have been risk factors for the disease. Further research may reveal that female patients with Bardet-Biedl should be screened for signs of endometrial cancer.

The case study was first published in the scientific journal Case Reports in Obstetrics and Gynecology.

 


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