Primary hyperparathyroidism in multiple endocrine neoplasia type 1: when to perform surgery?

Abstract

Primary hyperparathyroidism is a common endocrinological disorder. In rare circumstances, it is associated with familial syndromes, such as multiple endocrine neoplasia type 1. This syndrome is caused by a germline mutation in the multiple endocrine neoplasia type 1 gene encoding the tumor-suppressor protein menin. Usually, primary hyperparathyroidism is the initial clinical expression in carriers of multiple endocrine neoplasia type 1 mutations, occurring in more than 90% of patients and appearing at a young age (20–25 years). Multiple endocrine neoplasia type 1/primary hyperparathyroidism is generally accompanied by multiglandular disease, clinically manifesting with hypercalcemia, although it can remain asymptomatic for a long time and consequently not always be recognized early. Surgery is the recommended treatment. The goal of this short review is to discuss the timing of surgery in patients when primary hyperparathyroidism is associated with multiple endocrine neoplasia type 1.

Metastatic Pancreatic Gastrinoma, Severe Primary Hyperparathyroidism, And Adrenal Cushing Syndrome In A Patient With Multiple Endocrine Neoplasia Type 1: An Unusual Presentation And Review Of The Literature

“…Thymic carcinoids associated with MEN1 are particularly aggressive. As the general agreement is that thymectomy should be performed during parathyroidectomy (4,5,7,11,12,13), this was considered the treatment of choice in this case.…”

“…Parathyroid tumors affect approximately 95% of all MEN1 patients (1,3,(7)(8)(9)11,12) and the fraction of PHPT patients with MEN1 is estimated to be 1 to 5%. These tumors are usually the first clinical expression of MEN1 and are often diagnosed in the second decade of life (4,13).…”

“…Indications for parathyroidectomy in MEN1 should follow the same criteria used for sporadic asymptomatic PHPT (13). PHPT associated with MEN1 is surgically approached by either subtotal parathyroidectomy (removal of 3.5 glands, preserving at least 50 mg of parathyroid tissue) (7,11,13,14) or total parathyroidectomy followed by immediate parathyroid autograft (4,5,7,11,13).…”

Multiple Endocrine Neoplasia

“…A small number of patients with MEN1 and hyperparathydoidism have been treated with the calcium sensing receptor agonist, cinacalcet and it has been effetive in control the hyperparathyroidism (51,52). These agents may play an important role in the management of these patients in the future (53). Parathyroid carcinoma has been reported in patients with MEN1 (54,55), however it is uncommon, occuring in only 0.28% of all MEN1 patients, and the clinical presentation is similar to that seen in patients without MEN1 with parathyroid carcinoma (55).…”

The future: medical advances in MEN1 therapeutic approaches and management strategies

“…Early surgery can be more difficult because glands are only minimally enlarged, which might predispose the patient to recurrence and reoperation at an early age. On the other hand, longstanding elevated PTH might predispose the patient to more severe bone disease (Giusti et al 2012).…”