Familial Parathyroid Tumors: Diagnosis and Management

Background: The management of hyperparathyroidism (HPT) in the familial setting is complex. Due to the rarity of familial HPT and its different presentation within and between the familial syndromes and individual kindreds, treatment recommendations based on high levels of evidence cannot be made. However, based on the molecular genetic studies and case series from institutions with significant experience, important management principles (grade C recommendations) have been developed.

Methods: We conducted a systematic review of the literature using evidence-based criteria.

Results: Issue 1: initial operation in multiple endocrine neoplasia type 1 (MEN1), a grade C recommendation can be made for subtotal parathyroidectomy. Issue 2: initial surgery in MEN 2A, a grade C recommendation can be made for excision of enlarged glands only. Issue 3: surgery in familial isolated HPT and HPT-jaw tumor (HPT-JT) syndrome may be treated with parathyroidectomy that is subtotal or less, although the risk of parathyroid cancer in HPT-JT requires attention (no grade of recommendation). Issue 4: parathyroid surgery in familial HPT syndromes in the setting of underlying mutations in the calcium receptor (CASR) gene involves subtotal parathyroidectomy (no grade of recommendation). Issue 5: the use of intraoperative PTH measurements in familial HPT may guide the extent of parathyroid resection (no grade of recommendation).

Conclusions: The goals of parathyroidectomy in familial HPT are to achieve and maintain normocalcemia for the longest time possible, avoid both iatrogenic hypocalcemia and operative complications, and facilitate future surgery for recurrent disease.