Matthew B Lucas, Victoria E Yu and Run Yu
Mahvash disease is a novel pancreatic neuroendocrine tumor syndrome caused by inactivating glucagon receptor mutations. Its discovery was triggered by comparison of a patient with pancreatic neuroendocrine tumors, pancreatic α cell hyperplasia, extreme hyperglucagonemia but without glucagonoma syndrome, and occasional hypoglycemia, with the glucagon receptor knockout mice which exhibit similar phenotype and ultimately prove to be a model of Mahvash disease. So far 6 cases have been reported. The inheritance, prevalence, pathogenesis, natural history, diagnosis, treatment, and long-term follow-up of Mahvash disease are discussed in this article. Although rare, Mahvash disease provides important insights into the pathogenesis of pancreatic neuroendocrine tumors, pancreatic α cell fate regulation by glucagon signaling, and safety of glucagon signaling inhibition for diabetes treatment.
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