Multiple Endocrine Neoplasia Type 1 (MEN 1)

Diagnosis

Physicians evaluate symptoms of multiple endocrine neoplasia type 1 (MEN 1), such as primary hyperparathyroidism, pancreatic tumors, gastrointestinal tumors, endocrine tumors and pituitary tumors, through blood and urine testing. Physicians also use imaging tests such as magnetic resonance imaging (MRI), computed tomography (CT), positron emission tomography (PET), nuclear medicine scans, endoscopic ultrasound and other imaging scans as necessary to evaluate the disease and its progression in the patient's body. To confirm the presence of MEN 1 a genetic evaluation should be completed. Specialists at Mayo Clinic provide genetic consultation to patients and their families.

Diagnosing Pituitary Tumors

At Mayo Clinic, monitoring for pituitary tumors in MEN 1 patients includes MRI imaging of the pituitary gland and measurement of serum prolactin and insulinlike growth factor 1. In patients with abnormal MRI results, hypothalamic pituitary testing should be completed to determine the tumor type and its affect on other pituitary hormone secretion.

Diagnosing Primary Hyperparathyroidism

Specialists base the diagnosis of hyperparathyroidism in MEN 1 patients on hormone (parathyroid) and calcium levels in the body. Ninety-five percent of MEN 1 patients develop hyperparathyroidism due to multiple parathyroid tumors. Imaging studies are important evaluation tools in planning surgery for patients with recurrent hypercalcemia and in select patients undergoing first-time operations.

Percutaneous ultrasonography, sestamibi parathyroid scintigraphy (SPS), CT, MRI, selective venous sampling (SVS), and angiography are useful methods to evaluate parathyroid tumors and plan surgery in MEN 1 patients. At Mayo Clinic, specialists prefer SPS and percutaneous ultrasonography as first-line imaging studies for patients with MEN 1.

Diagnosing Pancreatic and Duodenal Neuroendocrine Tumors

Abnormal biochemical serum markers may appear in MEN 1 patients prior to the onset of a clinical condition. Specialists may recommend tests to determine levels and changes of pancreatic polypeptide, insulin, glucagon, gastrin, proinsulin, somatostatin, VIP, chromogranin A, PTHrP, and neurotensin levels.

Mayo specialists use endoscopic ultrasound more than conventional imaging (ultrasound, CT, MRI) techniques to detect pancreatic and duodenal endocrine tumors. Endoscopic ultrasound is considered more accurate than conventional imaging and offers the opportunity to include fine-needle aspiration (FNA) biopsy.