The MEA-I syndrome: an all or none phenomenon?

Abstract

Studies of two kindreds with the MEA-I syndrome prompted us to challenge the long-standing concept that endocrine involvement in this syndrome may be limited to one or two endocrine glands. Evaluation of medical histories, autopsies, or biochemical screening of 72 family members from five generations suggests that individuals inheriting the trait will develop endocrinopathy in all three endocrine systems characteristically involved in this syndrome, i.e., parathyroids, islets of Langerhans, and pituitary. Thirty-six surgical procedures have been performed on 21 family members. Gastrointestinal bleeding was the cause of death in 10 of 11 affected individuals. Only two individuals who inherited the trait have lived beyond 54 years, one with a total gastrectomy and one taking Cimetidine. In each instance, when tissue from one of the three endocrine systems was obtained (surgery or autopsy), abnormalities were documented. A search of the English-language literature (1953 to 1978) for reports of complete autopsies of MEA-I-affected individuals indicated pathology in all three endocrine systems in 29 of 32 cases. Medical and surgical management of this inherited disorder should be based on the concept that pathological changes will develop in the parathyroids, pancreatic islets, and the pituitary.