SURGICAL-MANAGEMENT OF HYPERPARATHYROIDISM IN PATIENTS WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A

Background. The surgical management of hyperparathyroidism in patients with multiple endocrine neoplasia type 2A (MEN 2A) is controversial. We report the long-term follow-up, mutational analysis, and surgical o utcome in a large group of patients with MEN 2A and hyperparathyroidis m. Methods. Clinical and genetic data for MEN 2A and patients with bio chemically and pathologically confirmed hyperparathyroidism and a mini mum of 5 years of follow-up were analyzed retrospectively and outcomes after surgical management were compared. Results. Thirty-five (29%) o f 119 patients from 14 MEN 2A kindreds had biochemical and pathologic evidence of hyperparathyroidism, with a mean follow-up of 14.7 years. The phenotypic expression of hyperparathyroidism was associated with g ermline mutations of the RET protooncogene at codons 634 and 618. At i nitial operation, 21 (62%) patients had a selective resection, eight ( 24%) had a subtotal resection, five (14%) had total parathyroidectomy with autotransplantation, and one had an inadvertent total parathyroid ectomy. Twenty-seven (77%) patients were cured by the first operation. Persistent hyperparathyroidism occurred in three (8.6%) patients, and recurrent hyperparathyroidism occurred in five (14.3%) patients; both occurred only in patients treated with selective or subtotal resectio n. Permanent postoperative hypoparathyroidism occurred in six (21%) of 29 patients after selective or subtotal resection, in the one patient with inadvertent total parathyroidectomy, and in one (20%) of 5 patie nts treated with total parathyroidectomy and autotransplantation. Conc lusions. Recurrent or persistent hyperthyroidism occurs after selectiv e or subtotal parathyroidectomy, as a result of either missed glands o r interval development of neoplasia in previously normal parathyroid g lands left in situ. Therefore we advocate total parathyroidectomy and heterotopic autotransplantation for patients with hyperparathyroidism and MEN 2A.