Clinical studies of multiple endocrine neoplasia type 1 (MEN1) [published erratum appears in QJM 1996 Dec;89(12):957-8]

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantdisorder characterized by the combined occurrence of parathyroid,pancreatic islet and anterior pituitary tumours. To facilitate a screeningprogramme for MEN1, we investigated 709 people (364 males and 345 females,age range 1-84 years) from 62 MEN1 families, and 36 non- familial MEN1patients. Of those investigated, 220 (95 males and 125 females, age range8-79 years) suffered from MEN1. Parathyroid, pancreatic and pituitarytumours occurred in 95%, 41% and 30% of the patients, respectively.Parathyroid tumours were the first manifestation of MEN1 in 87% ofpatients, and amongst the pituitary and pancreatic tumours,somatotrophinomas and gastrinomas were more common in patients above theage of 40 years, whilst insulinomas occurred more frequently in patientsbelow the age of 40 years. Biochemical screening indicated that thepenetrance of MEN1 by the ages of 20, 35 and 50 years was 43%, 85% and 94%,respectively, and that the development of MEN1 was confined to first-degreerelatives in 91% of patients and to second-degree relatives in 9% ofpatients. These findings have helped to define a proposed screeningprogramme for MEN1.