Multiple endocrine neoplasia type I.

Abstract

Multiple endocrine neoplasia type I is a rare autosomal dominant disorder with many endocrine and nonendocrine manifestations. Hyperparathyroidism, islet cell tumors, and pituitary tumors are diagnosed most commonly in these patients. There is controversy regarding treatment of the different manifestations and screening modalities of this disorder because no large series has determined the best therapeutic approach. Our institution advocates early screening with biochemical and radiographic testing in patients with a definite predilection for this disorder. Patients with hyperparathyroidism should undergo early surgical intervention of at least three and a half glands combined with bilateral upper thymectomy through a cervical incision. Although the recurrence rate is high, disease-free survival can be for as long as 30 years. Pituitary tumors are predominantly prolactinomas and growth hormone-releasing tumors. Prolactinomas usually require pharmacologic therapy, whereas growth hormone-releasing tumors are treated surgically. Enteropancreatic tumors should be treated surgically or medically, depending on the hormone secreted. Insulinomas respond well to distal pancreatectomy, with enucleation of the tumor from the head and uncinate process of the pancreas. However, there is controversy regarding the surgical treatment of gastrinomas. Carcinoid tumors should be treated with early surgical intervention. Adrenal lesions are thought to occur in association with pancreatic lesions and commonly have an indolent course. Adrenocortical cancers are uncommon in patients with multiple endocrine neoplasia type I. Skin lesions can be excised when cosmetically unappealing.