MEN1-associated primary hyperparathyroidism in the Spanish Registry: clinical characterictics and surgical outcomes

Abstract

Primary hyperparathyroidism is the most frequent manifestation of multiple endocrine neoplasia type 1 (MEN1) syndrome. Bone and renal complications are common. Surgery is the treatment of choice, but the best timing for surgery is controversial and predictors of persistence and recurrence are not well known. Our study describes the clinical characteristics and the surgical outcomes, after surgery and in the long term, of the patients with MEN1 and primary hyperparathyroidism included in the Spanish Registry of Multiple Endocrine Neoplasia, Pheochromocytomas and Paragangliomas (REGMEN). Eighty-nine patients (49 men and 40 women, 34.2 ± 13 years old) were included. Sixty-four out of the 89 underwent surgery: a total parathyroidectomy was done in 13 patients, a subtotal parathyroidectomy in 34 and a less than subtotal parathyroidectomy in 15. Remission rates were higher after a total or a subtotal parathyroidectomy than after a less than subtotal (3/4 and 20/22 vs 7/12, P < 0.05), without significant differences in permanent hypoparathyroidism (1/5, 9/23 and 0/11, N.S.). After a median follow-up of 111 months, 20 of the 41 operated patients with long-term follow-up had persistent or recurrent hyperparathyroidism. We did not find differences in disease-free survival rates between different techniques, patients with or without permanent hypoparathyroidism and patients with different mutated exons, but a second surgery was more frequent after a less than subtotal parathyroidectomy.

Bone and Mineral Metabolism Phenotypes in MEN1-Related and Sporadic Primary Hyperparathyroidism, before and after Parathyroidectomy

“…Comparison of bone and mineral metabolism-related biochemical parameters, measured before and after PTX, in our two series of PHPT patients confirmed that parathyroid surgery is efficient in restoring the normal PTH secretion and normalizing total calcium and calcium ion levels, as reported by previous studies [22][23][24][25], in association, in our patients, with a significant reduction in urinary excretion of calcium, in both MEN1 PHPT and sPHPT cases. A study by Coutinho et al [23] also showed a post-operative decrease in urinary calcium, but without reaching statistical significance.…”

Bone Metabolism and Vitamin D Implication in Gastroenteropancreatic Neuroendocrine Tumors

“…Although it is not closely related to mortality, it is responsible for morbidity, as bone and renal complications are common. Patients may be asymptomatic and diagnosed with HPT due to incidental finding of elevated serum calcium or parathormone levels, but nephrolithiasis, renal colic, or even renal failure may be present at onset [110,115,116]. The same signs and symptoms related to sporadic chronic hypercalcemia are also present in MEN1 patients, and there is increased bone resorption and fracture risk.…”

The role of menin in bone pathology

“…A study performed in the Russian population shows that skeletal complications arise in 87% of patients with sporadic hyperparathyroidism [13]. In PHPT/MEN1, bone mineral density is decreased in 58-72% of the cases [5,14]. The clinical course of bone disease in PHPT/MEN1 patients differs from that in sporadic PHPT/MEN1.…”

“…A study performed in the Russian population shows that skeletal complications arise in 87% of patients with sporadic hyperparathyroidism ( 13 ). In PHPT/MEN1, BMD is decreased in 58–72% of the cases ( 5 , 14 ).…”