Screening with thorough gastrointestinal (GI) history analysis and baseline magnetic resonance cholangiopancreatography (MRCP) is recommended for patients with McCune-Albright syndrome (MAS), a rare disorder linked to several GI pathologies caused by somatic gain-of-function mutations of GNAS, according to a study published in The Journal of Clinical Endocrinology & Metabolism.

A group of investigators associated with the National Institutes of Health (NIH), Yale University School of Medicine, and Johns Hopkins University School of Medicine conducted a cross-sectional analysis to outline the clinical spectrum and prevalence of MAS-linked GI disease.

The researchers invited participants (aged 7-67 years) of a longstanding MAS natural history analysis at the NIH to either undergo clinical GI screening for history of pancreatitis using MRCP (n=56) or undergo no additional screening (control group; n=136).

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Café-au-lait macules and growth hormone (GH) excess were more prevalent in screened individuals than unscreened (macules, 88% vs 71%; GH, 33% vs 19%). Screening revealed radiographic GI abnormalities in 56% of patients, intraductal papillary mucinous neoplasms (IPMNs) in 46%, and hepatobiliary abnormalities alone in 17%. Patients with IPMNs had an average age of 35.1 years (ranging from 18-67 years). Of the patients with IPMNs, 14 had IPMNs alone while 11 had IPMNs and other hepatobiliary findings.

In addition, when compared with screened patients without GI disease, 30 individuals with MAS-linked GI pathology had an increased frequency of acute pancreatitis, diabetes mellitus, and fibrous dysplasia.

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“In conclusion, we describe the clinical and radiographic GI abnormalities in the largest MAS cohort screened to date,” the authors wrote. “The results of this study indicate that GI manifestations in MAS are common, and that patients with MAS may benefit from being evaluated for GI pathology. The optimal care for GI findings in MAS remains to be defined but at the minimum a thorough GI history at every visit and consideration of imaging with abdominal MRI/MRCP are warranted,” they concluded.


Robinson C, Estrada A, Zaheer A, et al. Clinical and radiographic gastrointestinal abnormalities in McCune-Albright syndrome [published online August 15, 2018]. J Clin Endocrinol Metab. doi: 10.1210/jc.2018-01022