Advertisement

Multiglandular Parathyroid Disease and MEN Syndromes

  • Peter Langer
  • Detlef K. Bartsch
  • Matthias Rothmund
Chapter
  • 1.1k Downloads

24.9 Summary

Parathyroid surgery in the setting of familial disorders resulting in multiglandular disease is challenging for the endocrine surgeon. The aim of surgery is to gain eucalcemia for a long time without producing hypocalcemia. Since the syndromes are rare, sufficient data are lacking in most diseases. MEN1-HPTH should be treated with subtotal or total PTX with autotransplantation. Surgery in MEN2A has to be more tailored to the individual patient and subtotal PTX, total PTX and autotransplantation as well as excision of grossly enlarged glands might be alternatives depending on the patient’s history of the disease. The surgical approach to patients with HPTH-JTS is the same as to MEN2A-HPTH. Nevertheless radical surgery may be required in this special setting, since the incidence of parathyroid carcinoma is comparably high in these patients.

Cryopreservation of parathyroid tissue is mandatory in all cases of familial HPTH. The role of minimally invasive parathyroid surgery in familial HPTH is limited and should only be performed in redo cases combined with intraoperative PTH measurements.

Patients with FHH do not benefit from parathyroid surgery whereas infants with neonatal severe HPTH need to be operated on and total parathyroidectomy performed.

Keywords

Primary Hyperparathyroidism Medullary Thyroid Carcinoma Parathyroid Carcinoma Parathyroid Tissue Total Parathyroidectomy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Heath H 3rd, Hodgson SF, Kennedy MA (1980) Primary hyperparathyroidism. Incidence, morbidity, and potential economic impact in a community. N Engl J Med 302:189–193PubMedCrossRefGoogle Scholar
  2. 2.
    Benson L, Ljunghall S, Akerstrom G (1987) Hyperparathyroidism presenting as the first lesion in multiple endocrine neoplasia type 1. Am J Med 82:731–737PubMedCrossRefGoogle Scholar
  3. 3.
    Carty SE, Helm AK, Amico JA, Clarke MR, Foley TP, Watson CG, Mulvihill JJ (1998) The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1. Surgery 124:1106–1114PubMedCrossRefGoogle Scholar
  4. 4.
    Vasen HFA, Lamers CB, Lips CJM (1989) Screening for the multiple endocrine neoplasia syndrome type 1: a study of 11 kindreds in the Netherlands. Arch Intern Med 149:2717–2722PubMedCrossRefGoogle Scholar
  5. 5.
    Wermer P (1954) Genetic aspects of adenomatosis of endocrine glands. Am J Med 16:363–371PubMedCrossRefGoogle Scholar
  6. 6.
    Kraimps JL, Duh QY, Demeure M, et al (1992) Hyperparathyroidism in multiple endocrine neoplasia syndrome. Surgery 112:1080–1086PubMedGoogle Scholar
  7. 7.
    Langer P, Cupisti K, Bartsch DK, Nies C, Goretzki PE, Rothmund M, Röher HD (2002) Adrenal involvement in multiple endocrine neoplasia type 1. World J Surg 26:891–896PubMedCrossRefGoogle Scholar
  8. 8.
    Skogseid B, Rastad J, Gobl A, Larsson C, Backlin K, Juhlin C, Akerstrom G, Öberg K (1995) Adrenal lesion in multiple endocrine neoplasia type 1. Surgery 118:1077–1082PubMedCrossRefGoogle Scholar
  9. 9.
    Chandrasekharappa SC, Guru SC, Manickam P, et al. (1997) Positional cloning of the gene for multiple endocrine neoplasia type 1. Science 276:404–407PubMedCrossRefGoogle Scholar
  10. 10.
    Brandi ML, Falchetti A (2004) Genetics of primary hyperparathyroidism. Urol Int 72:11–16PubMedCrossRefGoogle Scholar
  11. 11.
    Goldman L, Smyth FS (1936) Hyperparathyroidism in siblings. Ann Surg 104:971–981CrossRefPubMedGoogle Scholar
  12. 12.
    Cetani F, Pardi E, Giovannetti A, et al (2002) Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism. Clin Endocrinol (Oxf) 56:457–464CrossRefGoogle Scholar
  13. 13.
    Kassem M, Kruse TA, Wong, FK, Larssun C, Teh BT (2000) Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree. J Clin Endocrinol Metab 85:165–167PubMedCrossRefGoogle Scholar
  14. 14.
    Miedlich A, Lohmann T, Schneyer U, Lamesch P, Paschke R (2001) Familial isolated primary hyperparathyroidism: a multiple endocrine neoplasia type 1 variant? Eur J Endocrinol 145:155–160PubMedCrossRefGoogle Scholar
  15. 15.
    Pannett AA, Kennedy AM, Turner JJ, et al (2003) Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol (Oxf) 58:639–646CrossRefGoogle Scholar
  16. 16.
    Simonds WF, Robbins CM, Agarwal SK, Hendy GN, Carpten JD, Marx SJ (2004) Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 89:96–102PubMedCrossRefGoogle Scholar
  17. 17.
    Carpten JD, Robbins CM, Villablanca A, et al (2002) HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 32:676–680PubMedCrossRefGoogle Scholar
  18. 18.
    Cavaco BM, Guerra L, Bradley KJ (2004) Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. J Clin Endocrinol Metab 89:1747–1752PubMedCrossRefGoogle Scholar
  19. 19.
    Huang SH (1996) Familial hyperparathyroidism. In: Clark OH, Duh QY (eds) Textbook of endocrine surgery, 1st edn. Saunders, Philadelphia, pp 385–393Google Scholar
  20. 20.
    Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG (1993) Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75:1297–1303PubMedCrossRefGoogle Scholar
  21. 21.
    Marx SJ, Attie MF, Levine MA, et al (1981) The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds. Medicine 60:397–412PubMedCrossRefGoogle Scholar
  22. 22.
    Langer P, Wild A, Nies C, Rothmund M, Bartsch DK (2001) Variable expression of multiple endocrine neoplasia type 1: implications for screening strategies. Int J Surg Invest 3:473–481Google Scholar
  23. 23.
    Marx SJ (2001) Multiple endocrine neoplasia type 1. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 943–966Google Scholar
  24. 24.
    Skarulis MC (1998) Clinical expressions of multiple endocrine neoplasia type 1 at the National Institutes of Health. Ann Int Med 129:484–494PubMedGoogle Scholar
  25. 25.
    Trump D, Farren B, Wooding C, Pang JT, Besser GM, Buchanan KD, et al (1996) Clinical studies of multiple endocrine neoplasia type 1 (MEN1). QJM 89:653–659PubMedGoogle Scholar
  26. 26.
    Burgess JR, David R, Greenaway TM, Parameswaran V, Shepherd JJ (1999) Osteoporosis in multiple endocrine neoplasia type 1. Arch Surg 134:1119–1123PubMedCrossRefGoogle Scholar
  27. 27.
    Langer P, Wild A, Schilling T, Nies C, Rothmund M, Bartsch DK (2004) Multiple endocrine neoplasia type 1: surgical therapy of primary hyperparathyroidism. Chirurg 75:900–906PubMedCrossRefGoogle Scholar
  28. 28.
    Norton JA, Cornelius MJ, Doppmann JL, Maton PN, Garner JD, Jensen RT (1987) Effect of parathyroidectomy in patients with hyperparathyroidism, Zolllinger-Ellison syndrome and multiple endocrine neoplasia type 1: a prospective study. Surgery 102:958–966PubMedGoogle Scholar
  29. 29.
    Marx SJ, Menczel J, Campbell G, Aurbach GD, Spiegel AM, Norton JA (1991) Heterogeneous size of the parathyroid glands in familial multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf) 35:521–526Google Scholar
  30. 30.
    Thompson NW (1995) The surgical management of hyperparathyroidism and endocrine disease of the pancreas in the multiple endocrine neoplasia type 1 patient. J Int Med 238:269–280CrossRefGoogle Scholar
  31. 31.
    Grimelius L, Akerstrom G, Bondeson L, Juhlin C, Johansson H, Ljunghall S, Rastad J (1991) The role of the pathologist in diagnosis and surgical decision making in hyperparathyroidism. World J Surg 15:698–705PubMedCrossRefGoogle Scholar
  32. 32.
    Kraimps JL, Duh QY, Demeure M, Clark OH (1992) Hyperparathyroidism in multiple endocrine neoplasia syndrome. Surgery 112:1080–1088PubMedGoogle Scholar
  33. 33.
    Burgess JR, David R, Parameswaran V, Greenaway TM, Shepherd JJ (1998) The outcome of subtotal parathyroidectomy for the treatment of hyperparathyroidism in multiple endocrine neoplasia type 1. Arch Surg 133:126–129PubMedCrossRefGoogle Scholar
  34. 34.
    Hellman P, Skogseid B, Öberg K, Juhlin C, Akerström G, Rastad J (1998) Primary and reoperative parathyroid operations in hyperparathyroidism of multiple endocrine neoplasia type 1. Surgery 124:993–999PubMedGoogle Scholar
  35. 35.
    Malmaeus J, Benson L, Johansson H, Ljunghall S, Rastad J, Akerström G, et al (1986) Parathyroid surgery in the multiple endocrine neoplasia type 1 syndrome: choice of surgical procedure. World J Surg 10:668–672PubMedCrossRefGoogle Scholar
  36. 36.
    Hubbard JG, Sebag F, Majewa S, Henry JF (2002) Primary hyperparathyroidism in MEN1: how radical should surgery be? Langenbecks Arch Surg 386:553–557PubMedCrossRefGoogle Scholar
  37. 37.
    Goudet P, Cougard P, Vergès B, Murat A, Carnaille B, Calender A, Faivre J, Proye C (2001) Hyperparathyroidism in multiple endocrine neoplasia type 1: surgical trends and results of a 256-patient series from Groupe d’Etude des Néoplasies Endocriniennes Multiples Study Group. World J Surg 25:886–890PubMedCrossRefGoogle Scholar
  38. 38.
    Duh QY, Hybarger CP, Geist R, et al (1987) Carcinoids associated with multiple endocrine neoplasia syndromes. Am J Surg 154:142–148PubMedCrossRefGoogle Scholar
  39. 39.
    Teh BT, Zedenius J, Kytölä S, et al (1998) Thymic carcinoids in multiple endocrine neoplasia type 1. Ann Surg 228:99–105PubMedCrossRefGoogle Scholar
  40. 40.
    Tonelli F, Spini S, Tommasi M, Gabrielli G, Amorosi A, Brocchi A, Brandi ML (2000) Intraoperative parathormone measurement in patients with multiple endocrine neoplasia type 1 syndrome and hyperparathyroidism. World J Surg 24:556–562PubMedCrossRefGoogle Scholar
  41. 41.
    Casanova D, Sarfati E, De Francisco A, Amado JA, Arias M, Dubost C (1991) Secondary hyperparathyroidism: diagnosis of site of recurrence. World J Surg 15:546–549PubMedCrossRefGoogle Scholar
  42. 42.
    Howe JR, Norton JA, Wells SA (1993) Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: results of long-term follow-up. Surgery 114:1070–1077PubMedGoogle Scholar
  43. 43.
    O’Riordan DS, O’Brien T, Grant CS, et al (1993) Surgical management of primary hyperparathyroidism in multiple endocrine neoplasia types 1 and 2. Surgery 114:1031–1037Google Scholar
  44. 44.
    Kraimps JL, Denizot A, Carnaille B, et al (French Calcitonin Tumors Study Group), French Association of Endocrine Surgeons (1996) Primary hyperparathyroidism in multiple endocrine neoplasia type IIa: retrospective French multicentric study. World J Surg 20:808–813PubMedCrossRefGoogle Scholar
  45. 45.
    Gagel RF, Tashjian AH Jr, Cummings T, Papathanasopoulos N, Kaplan MM, DeLellis RA, Wolfe HJ, Reichlin S (1988) The clinical outcome of prospective screening for multiple endocrine neoplasia type 2A: an 18-year experience. N Engl J Med 318:478PubMedCrossRefGoogle Scholar
  46. 46.
    Schuffeneker I, Virally-Monod M, Brohet R, le Groupe D’Etude des Tumeurs a Calcitonine (1998) Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. J Clin Endorinol Metab 83:487–491CrossRefGoogle Scholar
  47. 47.
    van Heerden JA, Kent III RB, Sizemore GW, et al (1983) Primary hyperparathyroidism in patients with multiple endocrine neoplasia syndromes. Surgical experience. Arch Surg 118:533–536PubMedGoogle Scholar
  48. 48.
    Herfarth KK, Bartsch D, Doherty GM, Wells SA Jr, Lairmore TC (1996) Surgical management of hyperparathyroidism in patients with multiple endocrine neoplasia type 2A. Surgery 120:966–973PubMedCrossRefGoogle Scholar
  49. 49.
    Mallette LE (1994) Management of hyperparathyroidism in the multiple endocrine neoplasia syndromes and other familial endocrinopathies. Endocrinol Metab Clin North Am 23:19–36PubMedGoogle Scholar
  50. 50.
    Brandi ML, Gagel RF, Angeli A, et al (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86:5658–5671PubMedCrossRefGoogle Scholar
  51. 51.
    Marx SJ, Agarwal SK, Simonds WF, et al (2002) Hyperparathyroidism in hereditary syndromes: special expressions and special managements. J Bone Miner Res 17(suppl 2):N37–N43PubMedGoogle Scholar
  52. 52.
    Clark OH, Way LW, Hunt TK (1976) Recurrent hyperparathyroidism. Ann Surg 184:391–402PubMedCrossRefGoogle Scholar
  53. 53.
    Allo M, Thompson NW (1982) Familial hyperparathyroidism caused by solitary adenomas. Surgery 92:486–490PubMedGoogle Scholar
  54. 54.
    Law WM, Hodgson SF, Heath H III (1983) Autosomal inheritance of familial hyperparathyroidism. N Engl J Med 309:650–653PubMedCrossRefGoogle Scholar
  55. 55.
    Doury P, Eulry F, Pattin S, Fromantin M, Gautier D, Bernard J, Tabaraud F, Masson C, Dano P (1983) Recurrent familial hyperparathyroidism: a propos of seven adenomas in three members of the same family and a review of the literature. Sem Hop Paris 59:3427–3430PubMedGoogle Scholar
  56. 56.
    Carneiro D, Irvin GL, Inabnet WB (2002) Limited versus radical parathyroidectomy in familial isolated primary hyperparathyroidism. Surgery 132:1050–1055PubMedCrossRefGoogle Scholar
  57. 57.
    Perrier ND, Villablanca A, Larsson C, Wong M, Ituarte P, Teh BT, Clark OH (2002) Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism. World J Surg 26:907–913PubMedCrossRefGoogle Scholar
  58. 58.
    Carrasco CA, Gonzalez AA, Carvajal CA, Campusano C, Oestreicher E, Arteaga E, Wohllk N, Fardella CE (2004) Novel intronic mutation of MEN1 gene causing familial isolated hyperparathyroidism. J Clin Endocrinol Metab 89:4124–4129PubMedCrossRefGoogle Scholar
  59. 59.
    Szabo J, Heath B, Hill VM, et al (1995) Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21–q31. Am J Hum Genet 56:944–950PubMedGoogle Scholar
  60. 60.
    Haven CJ, Wong FK, van Dam EW, et al (2000) A genotypic and histopathologic study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 85:1449–1454PubMedCrossRefGoogle Scholar
  61. 61.
    Marx SJ, Simonds WF (2005) Hereditary hormone excess: genes, molecular pathways, and syndromes. Endocr Rev 26:615–661PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2007

Authors and Affiliations

  • Peter Langer
    • 1
  • Detlef K. Bartsch
    • 2
  • Matthias Rothmund
    • 2
  1. 1.Department of SurgeryPhilipps-University HospitalMarburgGermany
  2. 2.Department of SurgeryPhilipps-UniversityMarburgGermany

Personalised recommendations