Surgical approach in hereditary hyperparathyroidism

Endocrine Journal

Volumn 56, Issue 7, 2009, Pages 827-841

  Tonelli, Francesco ^a   Marcucci, Tommaso ^a   Giudici, Francesco ^a   Falchetti, Alberto ^a   Brandi, Maria Luisa ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Hyperparathyroidism; MEN1; MEN2; Parathyroidectomy

Indexed keywords

CALCIUM SENSING RECEPTOR; CYCLIN DEPENDENT KINASE INHIBITOR 1B; PROTEIN P27; PROTEIN RET;

ENDOCRINE TUMOR; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; FAMILIAL ISOLATED PRIMARY HYPERPARATHYROIDISM; GENE MUTATION; HUMAN; HYPERCALCEMIA; HYPERPARATHYROIDISM JAW TUMOR SYNDROME; JAW TUMOR; MULTIPLE ENDOCRINE NEOPLASIA; MULTIPLE ENDOCRINE NEOPLASIA TYPE 4; NEONATAL SEVERE HYPERPARATHYROIDISM; NEWBORN DISEASE; NONHUMAN; PARATHYROID TUMOR; PARATHYROIDECTOMY; PRIMARY HYPERPARATHYROIDISM; RECURRENCE RISK; REVIEW; SECONDARY HYPERPARATHYROIDISM; SIPPLE SYNDROME;

HUMANS; HYPERCALCEMIA; HYPERPARATHYROIDISM, PRIMARY; MULTIPLE ENDOCRINE NEOPLASIA; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; PARATHYROIDECTOMY; RECURRENCE;

EID: 70350647445     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K09E-204     Document Type: Review

References (96)

1. Marx SJ, Simonds WF, Agarwal SK, et al. (2002) Hyperparathyroidism in hereditary syndromes: special expression and special managements. J Bone Miner Res 17 (Suppl 2): 37-43.
2. Brandi ML,Gagel RF, Angeli A, et al. (2001) Guidelines for diagnosis and therapy of MEN type1 and type2. J Clin Endocrinol Metab 86: 5658-5671
3. Burgess JR, David R, Greenaway TM, et al. (1999) Osteoporosis multiple endocrine neoplasia type1. Arch Surg 134: 1119-1123
4. Marx SJ, Menczel J, Campbell, et al. (1991) Heterogeneous size of the parathyroid glands in familial multiple endocrine neoplasia type 1. Clin Endocrinol 35: 521-526.
5. Arnalsteen LC, Alesina PF, Quireux JL, et al. (2002) Long-term results of less than total parathyroidectomy for hyperparathyroidism in multiple endocrine neoplasia type 1. Surgery 132:1119-1125
6. Kraimps JL, Quan-Yang Duh, Demeure M, et al. (1992) Hyperparathyroidism in multiple endocrine neoplasia syndrome. Surgery 112:1080-1088 (Pubitemid 23008235)
7. Amorosi A, Nesi G, Spini S, et al. (1994) Histologic features of parathyroid hyperplasia in multiple endocrine neoplasia type 1 (MEN-1). Diagnostic and surgical implications. Acta Chir Austriaca 26 ( Suppl. n. 112) : 13-15
8. Bonjer HJ, Bruining HA, Bierkenhager JC, et al. (1992) Single and multiglandular disease in primary hyperparathyroidism : clinical follow-up, histopathology and flow cytometric DNA analysis. World J Surg 16 :737-744
9. Wang CA. (1976) The anatomic basis of parathyroid surgery. Ann Surg 183:271-275
10. Brandi ML, Aurbach GD, Fitzpatrick LA. (1986) Parathyroid mitogenic activity in plasma from patients with familial multiple endocrine neoplasia type 1. N Engl J Med 314:1287-1293
11. Clark OH, Way LW, Hunt TW. (1976) Recurrent hyperparathyroidism. Ann Surg 184: 391-401.
12. Lairmore TC, Piersall LD, DeBenedetti MK, et al. (2004) Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1. Ann Surg 239:637-645
13. Metz DC, Jensen RT, Bale AE, et al. (1994) Multiple endocrine neoplasia type 1. In: Bilezikian JP, Marcus R, Levine MA,eds:The parathyroids. Basic and clinical concepts. Raven Press, New York, 591-646.
14. Hellman P, Skogseid B, Juhlin C, et al. (1992) Findings and long-term results of parathyroid surgery in multiple endocrine neoplasia type 1. World J Surg 16:718-725
15. st century. J Bone Mineral Res 17(Suppl 2):2-11.
16. Tonelli F, Amorosi A, Tommasi MS, et al. (1990) Fisiopatologia e diagnosi dell'iperparatiroidismo. Atti 92° Congr. SIC; Roma, 21-25 ottobre, Luigi Pozzi srl ed.-Roma.
17. Tonelli F, Spini S, Tommasi MS, et al. (2000) Intraoperative parathormone measurement in patients with multiple endocrine neoplasia type 1 syndrome and hyperparathyroidism. World J Surg 24:556-563 (Pubitemid 30210845)
18. Kivlen M., Bartlett DL, Libutti SK, et al. (2001) Reoperation for hyperparathyroidism in multiple endocrine neoplasia type 1. Surgery 130:991-998 (Pubitemid 34014564)
19. Teh BT, Esapa CT, Houlston R, et al. (1998) A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wildtype allelles in the parathyroid tumors. Am J Hum 63:1544-1548 (Pubitemid 30418552)
20. Goudet P, Cougard P, Verges B et al. (2001) Hyperparathyroidism in multiple endocrine neoplasia type I: surgical trends and results of a 256-patient series from groupe d'etude des nèoplasies endocriniennes multiples study group. World J Surg 25: 886-890. (Pubitemid 32666389)
21. O' Riordain DS, O' Brian T, Grant CS, et al. (1993) Surgical management of primary hyperparathyroidism in multiple endocrine neoplasia type 1 and 2. Surgery 114:1031-1039 (Pubitemid 24004720)
22. Janson S, Tisell LE. (1994) Total parathyroidectomy and parathyroid transplantation into subcutaneous fat tissue in the treatment of hyperparathyroidism in multiple endocrine neoplasia type 1. Acta Chir Austriaca 26 (Suppl. 112) : 23-26.
23. Cougard P, Proye C. (1994) Hyperparathyroidism and multiple endocrine neoplasia type 1 (MEN-1). Acta Chir Austriaca 26 (Suppl.112): 32-35.
24. Dralle H, Sheuemann GFW. (1994) How to handle the parathyroid glands in multiple endocrine neoplasia type 1 (MEN-1) and type 2 (MEN-2)? Surgical approach to uniglandular vs multiglandular disease in hereditary primary hyperparathyroidism. Acta Chir Austriaca 26 (Suppl.112): 35-38.
25. Nilsson O, Ahlman H, Tisell LE. (1994) Autotransplantation of parathyroid tissue into subcutaneous fat in the treatment of hyperparathyroidism in MEN-1. Abstracts of the Fifth International Workshop on multiple endocrine neoplasia. Stockholm Archipelago, Sweden, June 29-July 2, 1994.
26. Hellmann P, Skogseid B, Oberg K, et al. (1998) Primary and reoperative parathyroid operations in hyperparathyroidism of multiple endocrine neoplasia type 1. Surgery 124:993-999 (Pubitemid 28555184)
27. 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 167:173-178
28. 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: 858-865 (Pubitemid 38010729)
29. Sokol MS, Kavolius J, Schaaf M, et al. (1993) Recurrent hyperparathyroidism from benign neoplastic seeding: A review with recommendations for management. Surgery 113:456-461 (Pubitemid 23111539)
30. Edis AJ, Van Heerden JA, Scholz DA. (1979) Results of sub-total parathyroidectomy for primary chief cell hyperplasia. Surgery 86:462-469
31. Prinz RA, Gamvros OP, Sellu D, et al. (1981) Subtotal parathyroidectomy for primary chief cell hyperplasia of the multiple endocrine neoplasia type 1 syndrome. Surgery 193:26-29 (Pubitemid 11130868)
32. Van Heerden JA, Kent RB, Sizemore GW, et al. (1983) Primary hyperparathyroidism in patients with multiple endocrine neoplasia syndroms. Surgical experience. Arch Surg 118: 533-536
33. Goretzi PE, Dotzenrath C , Roeher HD. (1991) Management of primary hyperparathyroidism caused by multiglandular disease. World J Surg 15: 693-697
34. Thompson NW, Sandelin K. (1994) Technical considerations in the surgical management of primary hyperparathyroidism caused by multiple gland disease (hyperplasia). Acta Chir Austriaca 26 (Suppl 112):16-19.
35. Grant CS, Weaver A. (1994) Treatment of primary parathyroid hyperplasia: representative experience at Mayo Clinic. Acta Chir Austriaca 26 (Suppl 112) : 41-44.
36. Sonoda T, Ohkawa T, Takeuci M, et al. (1968) Successfull parathyroid preservation: experimental study. Surgery 64:791-795
37. Wells SA, Pardon JR, Dale YK, et al. (1980) Long term evaluation of patients with primary parathyroid hyperplasia managed by total parathyroidectomy and heterotopic autotransplantation. Ann Surg 192: 451-458
38. Wagner PK, Seesko HG, Rothmund M. (1991) Replantation of cryopreserved human parathyroid tissue. World J Surg 15:751-755
39. Edis AJ, Linos DA, Kao PC. (1980) Parathyroid autotransplantation to the time of reoperation for persistent hyperparathyroidism. Surgery 88: 588-593
40. Barnett HF, Thompson BW, Barbour GL. (1977) Parathyroid autotransplantation. Arch Surg 112:373-379
41. Feldman AL, Sharaf RN, Skarulis MC, et al. (1999) Results of heterotopic parathyroid autotransplantation: a 13-year experience Surgery 126:1042-1048
42. Malmaeus J, Benson L, Johansson H, et al. (1986) Parathyroid surgery in the multiple endocrine neoplasia type 1 syndrome: choice of surgical procedure. World J Surg 10: 668-672 (Pubitemid 16096425)
43. Knudsen L,Brandi L, Daugaard H, et al. (1996) Five to 19 years follow-up after total parathyroidectomy and autotransplantation of parathyroid tissue: evaluation of parathyroid function by use of ischaemic blockade manoeuvre. Scand J Clin Invest 56:47-50. (Pubitemid 26063567)
44. Silverberg SJ, Bone HG, Marriott TB, et al. (1997) Short-term inhibition of parathyroid hormone secretion by a calcium-receptor agonist in patients with primry hyperparathyroidism. N Engl J Med 337: 1506-1510
45. Block GA, Martin KJ, de Francisco ALM, et al. (2004) Cinacalcet for secondary hyperparathyroidism in patients receiving hemodialysis. N Engl J Med 350: 1516-25.
46. Mulligan LM, Eng C, Healey CS, et al. (1994) Specific mutations of the RET protooncogene are related to disease phenotype in MEN2A and FMTC. Nature Genetics 6:70-74 (Pubitemid 24191916)
47. Schuffenecker I, Billaud M, Calender A, et al. (1994) RET proto-oncogene muations in french MEN2a and FMTC families. Human Mol Gent 3:1939-1943 (Pubitemid 24341368)
48. Gagel RF, Tashjian AHJ, Cummings T, et al. (1988) The clinical outcome of prospective screening for multiple endocrine neoplasia type 2A: an 18-age year experience. New Engl J Med 318:478-484 (Pubitemid 18054294)
49. Mallette LE. (1994) Management of hyperparathyroidism in the multiple endocrine neoplasia syndromes and other familial endocrinopathies. Endocrinol Metab Clin North Am 23:19-36.
50. Herfarth KKF, Bartsch D, Doherty JM, et al. (1996) Surgical management of hyperparathyroidism in patients with multiple endocrine neoplasia type 2a Surgery 120:966-974
51. Raue F,Kraimps JL, Dralle H, et al. (1995) Primary hyperparathyroidism in multiple endocrine neoplasia type 2A. J Int Med 238:369-373
52. Wells SA, Chi DD, Toshima K, et al. (1994) Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2a. Ann Surg 220:237-250 (Pubitemid 24313219)
53. Decker RA, Geiger JD, Cox CE, et al. (1996) Prophylactic surgery for multiple endocrine neoplasia type IIa after genetic diagnosis: is parathyroid transplantation indicated? World J Surg 20:814-821
54. Kraimps JL, Denizot A, Carnaille B, et al. (1996) Primary hyperparathyroidism in multiple endocrine neoplasia type IIa: retrospective french multicentric study. World J Surg 20:808-813 (Pubitemid 26281908)
55. Moley JF. (1996) Invited commentary. Ref 53: World J Surg 20:820-821
56. Tonelli F, Marcucci T, Fratini G, et al. (2007) Is total parathyroidectomy the treatment of choice for hyperparathyroidism in multiple endocrine neoplasia type 1? Ann Surg 246: 1075-1082
57. Henry JF, Defechereux T, Raffaelli M, et al. (2000) Supernumerary ectopic hyperfunctioning parathyroid gland: a potential pitfall in surgery for sporadic primary hyperparathyroidism. Ann Chir 125: 247-252 (Pubitemid 30246665)
58. Akerstrom G, Malmaeus J, Bergstrom R. (1984) Surgical anatomy of human parathyroid glands. Surgery 95: 14-21. (Pubitemid 14215453)
59. Aly A Douglas M. (2003) Embryonic parathyroid rests occur commonly and have implications in the management of secondary hyperparathyroidism. ANZ J Surg 73: 284-288
60. Kollmorgen CF, Aust MR, Ferreiro JA, et al. (1994) Parathyromatosis: a rare yet important cause of persistent or recurrent hyperparathyroidism. Surgery 116: 111-115
61. Norton JA, Venzon DJ, Berna MJ, et al. (2008) Prospective study of surgery for primary hyperparathyroidism (HPT) in multiple endocrine neoplasia-type 1 and Zollinger-Ellison syndrome: long-term outcome of a more virulent form of HPT. Ann Surg 247:501-510
62. Hubbard JGH, Sebag F, Maweja S, et al. (2006) Subtotal parathyroidectomy as an adequate treatment for primary hyperparathyroidism in multiple endocrine neoplasia type 1. Arch Surg 141: 235-239
63. Arnalsteen L, Quievreux JL, Huglo D, et al. (2004) Reoperation for persistent or recurrent primary hyperparathyroidism. Seventy-seven cases among 1888 operated patients. Ann Chir 129: 224-231
64. Mariette C, Pellissier L, Combemale F, et al. (1998) Reoperation for persistent or recurrent primary hyperparathyroidism. Langenbecks Arch Surg 383: 174-179 (Pubitemid 28442535)
65. Matsuoka S, Tominaga Y, Sato T, et al. (2007) Recurrent renal hyperparathyroidism caused by parathyromatosis. World J Surg 31: 299-305. (Pubitemid 46183513)
66. Pellegata NS, Quintanilla-Martinez L, Siggelkow H, et al. (2006) Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci 103: 15558-15563 (Pubitemid 44625631)
67. Georgitsi M, Raitila A, Karhu A, et al. (2007) Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab 92: 3321-3325
68. Clerici T, Brandle M, Lange J, et al. (2004) Impact of intraoperative parathyroid hormone monitoring on the prediction of multiglandular parathyroid disease. World J Surg 28:187-192 (Pubitemid 38299026)
69. Jaskowiak NT, Sugg SL, Heike J, et al. (2002) Pitfalls of intraoperative quick parathyroid hormone monitoring and gamma probe localization in surgery for primary hyperparathyroidism. Arch Surg 137(6):659-68; discussion 668-669
70. Thompson GB, Grant CS, Perrier ND et al. (1999) Reoperative parathyroid surgery in the era of sestamibi scanning and intraoperative parathyroid hormone monitoring. Arch Surg 134: 699-705.
71. Hendy GN, D'Souza Li L, Yang B, et al. (2000) Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat 16(4):281-296 (Pubitemid 30740440)
72. Khosla S, Ebeling PR, Firek AF, et al. (1993) Calcium infusion suggests a "set-point" abnormality of parathyroid gland function in familial benign hypercalcemia and more complex disturbances in primary hyperparathyroidism. J Clin Endocrinol Metab 76: 715-720. (Pubitemid 23086494)
73. Marx SJ. (2000) Hyperparathyroid and hypoparathyroid disorders. N Engl J Med 343: 1863-1875.
74. McMurtry CT, Shranck FW, Walkenhorst DA, et al. (1992) Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia. Am J Med 93:247-258.
75. Carling T, Szabo E, Bai M et al. (2000) Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmatic tail of the calcium receptor. J Clin Endocrinol Metab 85: 2042-2047 (Pubitemid 32269318)
76. Szabo E, Carling T, Hessmann O et al. (2002) Loss of Heterozygosity in Parathyroid Glands of Familial Hypercalcemia with Hypercalciuria and Point Mutation in Calcium Receptor. J Clin Endocrinol Metab 87(8): 3961-3965. (Pubitemid 34884171)
77. Christensen SE, Nissen PH, Vestergaad P et al. (2008) Discriminative power of three indices of renal calcium excretion for the discrimination between familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a follow-up study on methods. Clin Endocrinol.
78. Fukumoto S, Chikatsu N, Okazaki R, Takeuchi Y, Tamura Y, MurakamiT, Obara T, Fujita T. (2001) Inactivating mutations of calcium-sensing receptor results in parathyroid lipohyperplasia. Diagn Mol Pathol 10: 242-247 (Pubitemid 33123933)
79. Marx SJ, Attie MF, Stock JL, et al. (1981) Maximal urine-concentrating ability: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. J Clin Endocrinol Metab 52(4):736-740
80. 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75(7):1297-1303 (Pubitemid 2030445)
81. 2+-sensing receptor gene. J Clin Endocrinol Metab 80:2594-2598
82. Dackiw AP, Sussman JJ, Frietsche HA, et al. (2000) Relative contribution of Technetium Tc 99m sestamibi scintigraphy, intraoperative gamma probe detection, and the rapid parathyroid hormone assay to the surgical management of hyperparathyroidism. Arch Surg 135;550-555
83. Marx SJ, Fraser D, Rapport A. (1985) Familial hypocalciuric hypercalcemia: mild expression of the gene in heterozygotes and severe expression in homozygotes. Am J Med 78:15-22. (Pubitemid 15159612)
84. Dotzenrath C, Goretzki PE, Sarbia M, et al. (2001) Parathyroid carcinoma: problems in diagnosis and the need for radical surgery even in recurrent disease. Eur J Surg Oncol 27: 383-389 (Pubitemid 32624541)
85. Hoetling T, Weber T, Werner J, et al. (2001) Surgical treatments of parathyroid carcinoma. Oncol Rep 8: 931-934
86. Goldman L, Smyth FS. (1936) Hyperparathyroidism in siblings. Ann Surg 104: 971-981
87. Carpten JD, Robbins CM, Villablanca A, et al. (2002) HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 32: 676-680
88. Bradley KJ, Hobbs MR, Buley ID, et al. (2005) Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome. J Intern Med 257: 18-26.
89. Iacobone M, Barzon L, Porzionato A, et al. (2007) Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism. Surgery 142: 984-991 (Pubitemid 350184117)
90. Carneiro DM, Irvin GL, Inabnet WB. (2002) Limited versus radical parathyroidectomy in familial isolated primary hyperparathyroidism. Surgery 132: 1050-1055
91. Kelly TG, Shattuck TM, Reyes-Mugica M, et al. (2006) Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation. J Bone Miner Res 21: 1666-1671 (Pubitemid 44484612)
92. Howell VM, Haven CJ, Kahnoski K, et al. (2003) HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. J Med Genet 40: 657-663 (Pubitemid 37100697)
93. Shattuck TM, Valimaki S, Obara T, et al. (2003) Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med 349: 1722-1729 (Pubitemid 37315009)
94. Huang SM, Duh QY, Shaver J, et al. (1997) Familial hyperparathyroidism without multiple endocrine neoplasia. World J Surg 21: 22-29 (Pubitemid 27026712)
95. Barry MK, van Heerden JA, Grant CS, et al. (1997) Is familial hyperparathyroidism a unique disease? Surgery 122: 1028-1033
96. Takami H, Shirahama S, Ikeda Y, et al. (2000) Familial hyperparathyroidism. Biomed Pharmacother 54: 21-24