According to a story from Clinical Advisor, a recent study has found a link between McCune-Albright syndrome and gastrointestinal disease. In fact, the authors of the study recommend that patients with the syndrome should undergo a thorough magnetic resonance cholangiopancreatography and a gastrointestinal history analysis. The researchers found that several potential biomarkers and metrics that indicate disease were elevated in patients with McCune-Albright syndrome (MAS)
About McCune-Albright Syndrome (MAS)
McCune-Albright Syndrome (MAS) is a genetic disorder that can alter the endocrine system, skin, and bones. The disease is caused by mutations affecting the GNAS gene. Patients with this syndrome present with a variety of unusual symptoms, such as fibrous dysplasia, endocrine disease, and distinctive birth marks called café au lait macules. Symptoms of endocrine disease include Cushing’s syndrome (usually only in infants), early puberty, excessive production of growth hormone, abnormalities of the testicles, and hyperthyroidism. Treatment for MAS is generally symptomatic, and may include surgery and medications. This disease can vary substantially in its severity, and some patients have only mild symptoms. Currently, there are no medications that can cure MAS, and there is significant medical need for more effective treatment options. To learn more about MAS, click here.
About The Study
The study involved screenings of MAS patients who were already participating in another, long term study of MAS. 56 percent of this group had some sort of gastrointestinal abnormality. 17 percent had hepatobiliary abnormalities (affecting the liver), and 46 percent had intraductal papillary mucinous neoplasms (IPMNs), a type of benign tumor that is considered precancerous, as it can form pancreatic cysts that ultimately evolve into deadly pancreatic cancer. 14 patients had IPMNs on their own, but there were 11 that had IPMNs and other conditions alongside it. The age range of IPMN patients was 18-67 years for an age average of 35.1. A significant portion of the screened patients also had other diseases such as diabetes and pancreatitis.
Digestive system disease has not traditionally been considered a characteristic of MAS, but this new study demonstrates that not only is it possible for MAS patients to have this diseases, but it is, in fact, fairly common. Read the original study here at The Journal of Clinical Endocrinology & Metabolism website.
