Clinical manifestations and diagnosis of multiple endocrine neoplasia type 1

INTRODUCTION

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant predisposition to tumors of the parathyroid glands (which occur in nearly all patients by age 50 years), anterior pituitary, and pancreatic islet cells; hence, the mnemonic device of the "3 Ps" (table 1) [1]. However, the clinical spectrum of this disorder has been expanded. The duodenum is a common site of tumors (gastrinomas) in these patients, and carcinoid tumors, adrenal adenomas, and lipomas are more common than in the general population (table 2).

The clinical manifestations and diagnosis of MEN1 will be reviewed here. The genetics of this disorder, its distinction from other MEN syndromes, and its treatment are discussed separately. (See "Definition and genetics of multiple endocrine neoplasia type 1" and "Approach to therapy in multiple endocrine neoplasia type 1" and "Clinical manifestations and diagnosis of multiple endocrine neoplasia type 2".)

DEFINITION OF MEN1

A consensus statement from an international group of endocrinologists recommends that MEN1 be defined as the presence of two of the three main MEN1 tumor types (parathyroid, entero-pancreatic endocrine adenomas, and pituitary adenomas). Familial MEN1 is defined as an index MEN1 case with at least one relative who has one of the three main MEN1 tumors [1]. It should be noted that these are clinical definitions and do not necessarily indicate that mutation of the MEN1 gene will be identifiable or responsible. (See "Definition and genetics of multiple endocrine neoplasia type 1".)

PRIMARY HYPERPARATHYROIDISM

Hyperparathyroidism is the most common manifestation of MEN1, displaying almost 100 percent penetrance by age 40 to 50 years. In most cases, it is the initial manifestation of MEN1. Reliable incidence figures do not exist, but it has been estimated that approximately one to two percent of all cases of primary hyperparathyroidism are due to MEN1 [1].

Primary hyperparathyroidism in the setting of familial MEN1 has a number of different features from the common sporadic (non-familial) form of the disease [1,2]:

               

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Literature review current through: 20.6: May 2012
This topic last updated: Apr 8, 2011
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