Diagnosis at Mayo Clinic

By Mayo Clinic Staff


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The diagnosis of MEN 1 includes gathering a thorough medical and family history, as well as a physical exam to look for signs and symptoms of excess hormones. Then, blood is drawn to check hormone levels, and imaging tests may be done to look for endocrine system tumors.

If someone has already been diagnosed with MEN 1, imaging tests may be done even if hormone levels aren't yet abnormal.

Imaging tests may include magnetic resonance imaging (MRI), computerized tomography (CT), positron emission tomography (PET), nuclear medicine scans (for example, octreotide scintigraphy), 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, such as parathyroid sestamibi subtraction scanning with SPECT CT imaging; ultrasound, which may include fine-needle aspiration with parathyroid hormone measurement; and 4-D CT scanning.
  • Pancreatic and duodenal neuroendocrine tumors. Specialists may use blood 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. Imaging is often done with CT or MRI using specialized procedures to detect small tumors in the pancreas. 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

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 get genetic testing or start getting clinical screening in childhood or the early teen years because problems, such as hyperparathyroidism, can develop before the age of 20. Screening can begin as early as 5 years old.

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 causing MEN 1. If someone has a mutation, his or her children are at risk of inheriting the mutation and developing MEN 1. Parents and siblings also are at risk of having the mutation even if they have not yet developed symptoms. 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, he or she and his or her family members still need close follow-up with appropriate blood tests and diagnostic imaging.

Dec. 24, 2015