Familial Parathyroid Tumors: Diagnosis and Management
- 288 Downloads
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.
We conducted a systematic review of the literature using evidence-based criteria.
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).
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.
- 21.O’Riordain DS, O’Brien T, Grant CS et al. (1993) Surgical management of primary hyperparathyroidism in multiple endocrine neoplasia types 1 and 2. Surgery 114(6):1031–1037 discussion 1037–1039Google Scholar
- 22.Elaraj DM, Skarulis MC, Libutti SK et al (2003) Results of initial operation for hyperparathyroidism in patients with multiple endocrine neoplasia type 1. Surgery 134(6):858–864 discussion 864–855Google Scholar
- 23.Kraimps JL, Denizot A, Carnaille B et al (1996) Primary hyperparathyroidism in multiple endocrine neoplasia type IIa: retrospective French multicentric study. Groupe d’Etude des Tumeurs a Calcitonine (GETC, French Calcitonin Tumors Study Group), French Association of Endocrine Surgeons. World J Surg 20(7):808–812 discussion 812–803Google Scholar
- 27.Udelsman R, Aruny JE, Donovan PI et al (2003) Rapid parathyroid hormone analysis during venous localization. Ann Surg 237(5):714-719 discussion 719-721Google Scholar
- 30.Casanova D, Sarfati E, De Francisco A et al (1991) Secondary hyperparathyroidism: diagnosis of site of recurrence. World J Surg 15(4):546-549 discussion 549-550Google Scholar
- 38.Herfarth KK, Bartsch D, Doherty GM et al (1996) Surgical management of hyperparathyroidism in patients with multiple endocrine neoplasia type 2A. Surgery 120(6):966–973 discussion 973–964Google Scholar
- 46.Iacobone M, Barzon L, Porzionato A et al (2007) Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism. Surgery 142(6):984-991 discussion 984-991Google Scholar
- 47.Scillatini A, Muscarella L, Guarnieri V et al (2004) Preclinical diagnosis of parathyroid carcinoma in a subject with a germline mutation of the parafibromin gene. J Intern Med 255:716Google Scholar
- 51.Cole D, Janicic N, Salisbury S et al (1997) Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene. Am J Med Genet 71:202–210PubMedCrossRefGoogle Scholar
- 57.Carneiro DM, Solorzano CC, Nader MC et al (2003) Comparison of intraoperative iPTH assay (QPTH) criteria in guiding parathyroidectomy: which criterion is the most accurate? Surgery 134(6):973-979 discussion 979-981Google Scholar
- 61.Jaskowiak NT, Sugg SL, Helke J et al (2002) Pitfalls of intraoperative quick parathyroid hormone monitoring and gamma probe localization in surgery for primary hyperparathyroidism. Arch Surg 137(6):659-668 discussion 668-659Google Scholar
- 62.Tonelli F, Spini S, Tommasi M et al (2000) Intraoperative parathormone measurement in patients with multiple endocrine neoplasia type I syndrome and hyperparathyroidism. World J Surg 24(5):556-562; discussion 562-553Google Scholar
- 63.Weber CJ, Ritchie JC (1999) Retrospective analysis of sequential changes in serum intact parathyroid hormone levels during conventional parathyroid exploration. Surgery 126(6):1139–1143 discussion 1143-1134Google Scholar
- 64.Dackiw AP, Sussman JJ, Fritsche HA Jr et al (2000) Relative contributions of technetium 99 m sestamibi scintigraphy, intraoperative gamma probe detection, and the rapid parathyroid hormone assay to the surgical management of hyperparathyroidism. Arch Surg 135(5):550–555; discussion 555–557Google Scholar
- 66.Dotzenrath C, Cupisti K, Goretzki PE et al (2001) Long-term biochemical results after operative treatment of primary hyperparathyroidism associated with multiple endocrine neoplasia types I and IIa: is a more or less extended operation essential? Eur J Surg 167(3):173–178PubMedCrossRefGoogle Scholar