Risk assessment and genetic counseling for multiple endocrine neoplasia type 1 (MEN1)

The purpose of this article is to describe practical ways to identify multiple endocrine neoplasia type 1 (MEN1) at an early stage. MEN1 is a complex hereditary endocrinopathy in which early diagnosis of component tumors can help reduce morbidities associated with longstanding disease and deaths from advanced MEN1-related malignancies. Our experience has been that a diagnosis of MEN1 is often delayed until after the patient has developed a second, often more serious MEN1-related tumor. Due to the progressive nature of MEN1, its rarity, and sometimes nonspecific symptomatology, it is challenging to identify the disease early in patients presenting with MEN1-related conditions such as primary hyperparathyroidism, pituitary adenomas, pancreatic/duodenal neuroendocrine tumors, or foregut carcinoids. To make an early diagnosis of MEN1, a thorough family history and genetic testing of appropriate candidates are needed.