Wermer Syndrome (MEN Type 1) Clinical Presentation

Updated: Feb 18, 2015
  • Author: Laura Williams, MD; Chief Editor: George T Griffing, MD  more...
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Presentation

History

Hyperparathyroidism is usually the initial clinical manifestation of multiple endocrine neoplasia type 1 (MEN1); however, some patients may initially present with Zollinger-Ellison syndrome (ZES). [12]

The symptoms due to a gastrin-secreting tumor (gastrinoma) consist of abdominal pain and diarrhea or complications of peptic ulcer disease, such as ulcer perforation or bleeding.

Insulinomas also may be identified prior to primary hyperparathyroidism-associated hypercalcemia. Hypoglycemia with improvement in symptoms after glucose intake is the classic presentation.

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Physical

The clinical picture for multiple endocrine neoplasia type 1 (MEN1) depends on the endocrine organs involved and the hormones secreted. It varies from patient to patient. [1]

Hyperparathyroidism usually presents with mild hypercalcemia, and patients rarely develop nephrolithiasis. Other manifestations include bone abnormalities and musculoskeletal complaints, as seen in the images below. Patients may report increased thirst and urination and/or constipation. In more severe hypercalcemia, generalized weakness and alterations of mental status may develop. These features are similar to presentations of other forms of hypercalcemia.

Anteroposterior radiographic view of the right han Anteroposterior radiographic view of the right hand in a patient with multiple endocrine neoplasia syndrome type 1 (MEN1) and primary hyperparathyroidism. This image shows subperiosteal bone resorption along the radial aspects of the middle phalanges (arrows).
Bilateral, anteroposterior radiographic views of t Bilateral, anteroposterior radiographic views of the hands in a patient with multiple endocrine neoplasia syndrome type 1 (MEN1) and primary hyperparathyroidism. These images show subperiosteal bone resorption along the radial aspects of the middle phalanges.

Gastrinoma symptoms caused by Zollinger-Ellison syndrome (ZES) include diarrhea and upper abdominal pain due to peptic ulcers and esophagitis.

Insulinomas frequently cause fasting hypoglycemia. [13]

Glucagonoma syndrome consists of a rash (necrolytic migratory erythema), anorexia, anemia, diarrhea, venous thrombosis, and stomatitis. The full syndrome is rarely expressed.

Pituitary tumor symptoms may include headache and visual-field defects, owing to tumor growth. Prolactinomas may cause erectile dysfunction or decreased libido in men, while women may develop amenorrhea and galactorrhea. Growth hormone–secreting tumors can cause acromegaly and result in enlarging hand and feet size. Jaw size can increase and manifest with increased drooling and larger spaces between teeth. Corticotropin-producing tumors cause excess cortisol secretion and can present with large, purplish abdominal stretch marks; increased bruising; and proximal muscle weakness.

Carcinoid tumor presenting features can include flushing, diarrhea, and bronchospasm.

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Causes

The putative gene for multiple endocrine neoplasia type 1 (MEN1) has been localized to band 11q13 and codes for the menin protein. Menin is involved with regulation of transcription and genome stability. Loss of heterozygosity for this region is associated with MEN1, suggesting that the gene has tumor suppression function. Patients inherit one mutated copy of the gene and require a somatic mutation of the second copy for tumor development. MEN1 is an autosomal dominant disorder, but sporadic mutations also occur.

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