Diagnosis at Mayo Clinic

By Mayo Clinic Staff

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You may have one or more of these imaging tests: magnetic resonance imaging (MRI), computerized tomography (CT), positron emission tomography (PET), nuclear medicine scans, endoscopic ultrasound of the pancreas and other scans. In tests that involve radiation, specialists carefully monitor doses to avoid the risk of radiation overexposure.

Conditions and testing related to MEN 1 may include:

  • Pituitary tumors. At Mayo Clinic, monitoring for pituitary tumors in people with MEN 1 includes an MRI of the pituitary gland and measuring certain hormones in your blood. If MRI results are abnormal, your doctor may do other pituitary testing. The most common pituitary gland problem in MEN 1 is a small tumor that releases too much prolactin (prolactinoma), which can often be treated without surgery.
  • Hyperparathyroidism. Specialists diagnose overactive parathyroid glands (hyperparathyroidism) in people with MEN 1 based on parathyroid hormone (PTH) and calcium levels. Almost all people with MEN 1 develop hyperparathyroidism. At Mayo Clinic, specialists use the latest technology for diagnosis.
  • Pancreatic and duodenal neuroendocrine tumors. Specialists may use tests to detect substances produced by tumors (tumor markers) in the blood of people with MEN 1. Sometimes these changes can be found before symptoms appear. Mayo specialists may also use endoscopic ultrasound to detect endocrine tumors in the first part of the small intestine (duodenum) and the pancreas. Nuclear medicine scans, such as octreotide scintigraphy, may be used to confirm the presence and locations of pancreatic neuroendocrine tumors.
  • Other tumors and findings. Tumors may arise in the lungs, thymus gland (carcinoid tumors) and esophagus (leiomyoma). Doctors will usually perform periodic imaging tests of these areas. People with MEN 1 often have skin tumors; these are benign and should be removed only if they cause symptoms.

Genetic consultation and testing

You and your family can meet with genetic specialists to review the pros and cons of genetic testing. At this meeting, you can learn:

  • How and where the test is performed
  • The probability of a positive test
  • How a positive test would influence current medical management
  • How a positive test would provide options for at-risk family members
  • Which family members might be at risk and need further evaluation

Genetic testing may determine whether someone has a genetic mutation related to MEN 1. If no related genetic changes are found in family members, then no further screening tests are needed. However, genetic testing doesn't uncover all MEN 1 genetic mutations. If genetic testing doesn't confirm MEN 1, but it's likely a person has it, then close follow-up with diagnostic imaging and other tests is still necessary.

Mayo Clinic experts encourage people who have a MEN 1 genetic mutation to have periodic tests to look for tumors and other related medical problems. Experts recommend that family members at risk of MEN 1 start getting clinical screening in childhood or the early teen years.

Nov. 19, 2012

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