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The Natural History of Multiple Endocrine Neoplasia Type 1: Highly Uncommon or Highly Unrecognized?

The Natural History of Multiple Endocrine Neoplasia Type 1: Highly Uncommon or Highly Unrecognized? Abstract • Among 2000 descendants of an English immigrant to Tasmania, Australia, the diagnosis of multiple endocrine neoplasia type 1 was found to be very highly probable or highly probable in 130 and moderately probable in 22. Another 242 children and siblings were 50% likely to have inherited this dominant gene. In all age groups, especially the elderly, the majority of affected members had symptoms of only one endocrine disorder or were asymptomatic. In teenagers, the most common presentation was pituitary lesions and the second most common presentation was insulinomas. Frequently, pituitary lesions or insulinomas developed before any parathyroid lesions could be detected. Elevation of gastrin levels, usually associated with hypercalcemia, was rarely seen in patients younger than 25 years. The classic presentation with symptoms of multiple endocrinopathy may represent only a small fraction of these patients in the community. (Arch Surg. 1991;126:935-952) References 1. Larsson C, Skogseid B, Oberg IC, Nakamura Y, Nordenskjold M. Multiple endocrine neoplasia maps to chromosome 11 and is lost in insulinoma . Nature . 1988;332:85-87.Crossref 2. Majewski JT, Wilson SD. The MEN-1 syndrome: an all or none phenomenon . Surgery . 1979;86:475-484. 3. Lynch HT, Lynch PM, Follet KL, Haris RE. Familial polyposis coli: heterogenous polyp expression in two kindreds . J Med Genet . 1979;16:1-7.Crossref 4. Emmertson K. Screening for hereditary medullary cancer in Denmark . Henry Ford Hosp Med J . 1984;32:238-243. 5. Sircus W. In: Smith A, ed. Lessons From the Zollinger-Ellison Syndrome: Surgical Physiology of the Gastro Intestinal Tract . Edinburgh, Scotland: Royal College of Surgeons of Edinburgh; 1963; 92-98. 6. Marx SJ, Vinik Al, Santen RJ, Floyd JC, Mills JL, Green J. Multiple endocrine neoplasm type 1: assessment of laboratory tests to screen for the gene in a large kindred . Medicine . 1986;65:226-241.Crossref 7. Shepherd JJ. Latent familial multiple endocrine neoplasia in Tasmania . Med J Aust . 1985;142:395-397. 8. Wermer P. Endocrine adenomatosis and peptic ulcer in a large kindred . Am J Med . 1964;35:205-212.Crossref 9. Benson L, Lunghall S, Akerstrom G, Oberg K. Hyperparathyroidism presenting as the first lesion in multiple endocrine neoplasia type 1 . Am J Med . 1987;82:731-737.Crossref 10. Vasen HFA, Lamers CBHW, Lips CJM. Screening for the multiple endocrine neoplasia syndrome type 1: a study of 11 kindreds in the Netherlands . Arch Intern Med . 1989;149:2717-2722.Crossref 11. Skogseid B, Oberg K, Benson L, et al. A standardized meal stimulation test of the endocrine pancreas in early detection of pancreatic endocrine tumors in multiple endocrine neoplasia type 1 syndrome: five years' experience . J Endocrinol Metabol . 1987;64:1233-1240.Crossref 12. Skogseid B. Multiple endocrine neoplasia type 1: clinical biochemical and genetic investigations . Acta Univ Upsaliensis . 1990;252:1-43. 13. Pipeleers-Marichal M, Somers G, Willens G, et al. Gastrinomas in the duodenums of patients with multiple endocrine neoplasia type 1 and the Zollinger-Ellison syndrome . N Engl J Med . 1990;322:723-727.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Surgery American Medical Association

The Natural History of Multiple Endocrine Neoplasia Type 1: Highly Uncommon or Highly Unrecognized?

Archives of Surgery , Volume 126 (8) – Aug 1, 1991

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Publisher
American Medical Association
Copyright
Copyright © 1991 American Medical Association. All Rights Reserved.
ISSN
0004-0010
eISSN
1538-3644
DOI
10.1001/archsurg.1991.01410320017001
Publisher site
See Article on Publisher Site

Abstract

Abstract • Among 2000 descendants of an English immigrant to Tasmania, Australia, the diagnosis of multiple endocrine neoplasia type 1 was found to be very highly probable or highly probable in 130 and moderately probable in 22. Another 242 children and siblings were 50% likely to have inherited this dominant gene. In all age groups, especially the elderly, the majority of affected members had symptoms of only one endocrine disorder or were asymptomatic. In teenagers, the most common presentation was pituitary lesions and the second most common presentation was insulinomas. Frequently, pituitary lesions or insulinomas developed before any parathyroid lesions could be detected. Elevation of gastrin levels, usually associated with hypercalcemia, was rarely seen in patients younger than 25 years. The classic presentation with symptoms of multiple endocrinopathy may represent only a small fraction of these patients in the community. (Arch Surg. 1991;126:935-952) References 1. Larsson C, Skogseid B, Oberg IC, Nakamura Y, Nordenskjold M. Multiple endocrine neoplasia maps to chromosome 11 and is lost in insulinoma . Nature . 1988;332:85-87.Crossref 2. Majewski JT, Wilson SD. The MEN-1 syndrome: an all or none phenomenon . Surgery . 1979;86:475-484. 3. Lynch HT, Lynch PM, Follet KL, Haris RE. Familial polyposis coli: heterogenous polyp expression in two kindreds . J Med Genet . 1979;16:1-7.Crossref 4. Emmertson K. Screening for hereditary medullary cancer in Denmark . Henry Ford Hosp Med J . 1984;32:238-243. 5. Sircus W. In: Smith A, ed. Lessons From the Zollinger-Ellison Syndrome: Surgical Physiology of the Gastro Intestinal Tract . Edinburgh, Scotland: Royal College of Surgeons of Edinburgh; 1963; 92-98. 6. Marx SJ, Vinik Al, Santen RJ, Floyd JC, Mills JL, Green J. Multiple endocrine neoplasm type 1: assessment of laboratory tests to screen for the gene in a large kindred . Medicine . 1986;65:226-241.Crossref 7. Shepherd JJ. Latent familial multiple endocrine neoplasia in Tasmania . Med J Aust . 1985;142:395-397. 8. Wermer P. Endocrine adenomatosis and peptic ulcer in a large kindred . Am J Med . 1964;35:205-212.Crossref 9. Benson L, Lunghall S, Akerstrom G, Oberg K. Hyperparathyroidism presenting as the first lesion in multiple endocrine neoplasia type 1 . Am J Med . 1987;82:731-737.Crossref 10. Vasen HFA, Lamers CBHW, Lips CJM. Screening for the multiple endocrine neoplasia syndrome type 1: a study of 11 kindreds in the Netherlands . Arch Intern Med . 1989;149:2717-2722.Crossref 11. Skogseid B, Oberg K, Benson L, et al. A standardized meal stimulation test of the endocrine pancreas in early detection of pancreatic endocrine tumors in multiple endocrine neoplasia type 1 syndrome: five years' experience . J Endocrinol Metabol . 1987;64:1233-1240.Crossref 12. Skogseid B. Multiple endocrine neoplasia type 1: clinical biochemical and genetic investigations . Acta Univ Upsaliensis . 1990;252:1-43. 13. Pipeleers-Marichal M, Somers G, Willens G, et al. Gastrinomas in the duodenums of patients with multiple endocrine neoplasia type 1 and the Zollinger-Ellison syndrome . N Engl J Med . 1990;322:723-727.Crossref

Journal

Archives of SurgeryAmerican Medical Association

Published: Aug 1, 1991

References