Multiple Endocrine Neoplasia Type 1: A 10-Year Prospective Screening Study in Four Kindreds*

Abstract

A total of 80 individuals in 4 kindreds with multiple endocrine neoplasia type 1 (MEN 1) have been subjected to repeated biochemical screening during a 10-yr period with the principal aim being to analyze characteristics of the developing pancreatic lesion. Age at presentation of the MEN 1 trait averaged 18 yr in 7 previously unaffected individuals, and this effect of the screening procedure represented a lowering by almost 2 decades. Pancreatic endocrine involvement was recognized at a mean age of 25 yr and constituted the presenting lesion in a majority of the patients. A standardized meal test and basal values of serum pancreatic polypeptide, insulin, proinsulin, and gastrin were the most efficient markers for the pancreatic lesion and preceded signs of pancreatic tumors upon radiological examinations by a mean of 3.5 yr. A 75% penetrance of the islet cell disease and 90% for primary hyperparathyroidism within the affected individuals equalled the prevalences reported in autopsy studies. Two of the kindreds showed signs of intrafamilial homogeneity with respect to the profile of peptide excess (P less than 0.05) and considerable discrepancy in the malignant potential of the pancreatic lesions. The results of early detection and surgical intervention of the pancreatic tumors in MEN 1 suggested an impact on morbidity, while any effect on the mortality of these individuals remains to be clarified.

The appearance of the adrenal glands on computed tomography in multiple endocrine neoplasia type 1

“…distinguishing clinical features of the four patients who lacked adrenal hyperplasia, all had hyperparathyroidism, three had pituitary tumours and three had pancreatic endocrine tumours. A previous study by Skogseid et al (16) suggested that adrenal enlargement was associated with the presence of pancreatic endocrine tumours. This does not appear to be evident within our cohort; three out of four with normal adrenal size and 7 out of 24 with adrenal hyperplasia had confirmed pancreatic endocrine tumours.…”

The Impact of Clinical and Genetic Screenings on the Management of the Multiple Endocrine Neoplasia Type 1

“…1 However, it is accepted that the earlier the identification of MEN1 neoplasias, the better the clinical management of this disease. 30,31 As recommended by the MEN Consensus, the suggested approach for patients with MEN1 is based on periodical surveillance of MEN1-related neoplasias that should begin as early as 5 to 20 years of age.…”

Guidelines for the management of gastroenteropancreatic neuroendocrine tumours (including bronchopulmonary and thymic neoplasms) Part I—General Overview

“…Exceptions to this are the carcinoids of the appendix, which occur with the highest incidence below 30 years of age, followed by the age group between 30 and 49 years. MEN-1 patients may have a clinical onset 15 years earlier than patients with sporadic cases (3,4).…”

“…No exact figures for incidence are available, whereas a prevalence of 0.2 has been reported. It is a general belief that MEN-1 is largely under-diagnosed in most countries (4).…”

“…Genetic screening for MEN-1 should be offered to family members. Those with genetic deletion should be followed up annually for detection of parathyroid disease, pituitary, pancreatic, and other tumours (4,7).…”