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Multiple endocrine neoplasia type 1: Clinical manifestations and diagnosis

Author
Andrew Arnold, MD
Section Editor
Marc K Drezner, MD
Deputy Editor
Jean E Mulder, MD

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 entero-pancreatic endocrine 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 multiple endocrine neoplasia (MEN) syndromes, and its treatment are discussed separately. (See "Multiple endocrine neoplasia type 1: Definition and genetics" and "Multiple endocrine neoplasia type 1: Treatment" and "Clinical manifestations and diagnosis of multiple endocrine neoplasia type 2".)

DEFINITION OF MEN1

Multiple endocrine neoplasia type 1 (MEN1) is a rare heritable disorder classically characterized by a predisposition to tumors of the parathyroid glands, anterior pituitary, and pancreatic islet cells [1]. The presence of MEN1 is defined clinically as the occurrence of two or more primary MEN1 tumor types, or in family members of a patient with a clinical diagnosis of MEN1, the occurrence of one of the MEN1-associated tumors. 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 "Multiple endocrine neoplasia type 1: Definition and genetics".)

CLINICAL MANIFESTATIONS

Parathyroid tumors — Multiple parathyroid tumors causing hyperparathyroidism are the most common manifestation of multiple endocrine neoplasia type 1 (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 the incidence of MEN1 ranges from 1 to 18 percent in patients with primary hyperparathyroidism [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: Nov 2016. | This topic last updated: Thu May 28 00:00:00 GMT 2015.
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