Mahvash disease

Medical condition

Mahvash disease is an autosomal recessive, hereditary pancreatic neuroendocrine tumor syndrome. The genetic defect that causes Mahvash disease is biallelic inactivating mutations of the glucagon receptor gene (GCGR). Mahvash disease was discovered by American physician Run Yu and his colleagues in 2008. Mahvash disease is very rare. There have been approximately 15 cases of Mahvash disease described in detail by the end of 2023. Mahvash disease occurs in both females and males. Mahvash disease is also called “glucagon cell hyperplasia and neoplasia” or “glucagon cell adenomatosis” by some authors but Mahvash disease is a distinct disease entity while the two alternative terms are mostly histological descriptions. Some patients with “glucagon cell hyperplasia and neoplasia” do not have glucagon receptor mutations.

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