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Multiple Endocrine Neoplasia: Genetic Testing and Treatment

Genetic Testing for Multiple Endocrine Neoplasia
A genetic test is available to determine if you have a genetic mutation associated with multiple endocrine neoplasia (MEN). The test can be used to help aid in the diagnosis or to test family members of a person diagnosed with MEN to see if the family members also have the genetic mutation and, thus, are at risk for MEN in the future.

Genetic testing is currently recommended for:

  • People with MEN
  • First-degree family members of people with MEN regardless of whether the family members have symptoms of the disease.

Testing for tumors should be done as early as possible in family members as symptoms of the disease can start as early as age 5. The timing of testing, especially in MEN2 may depend on the mutation in the RET gene, Genetic testing in family members with no symptoms is recommended before use of laboratory or imaging tests.

Not everyone who has the genetic mutation develops MEN. If you have the genetic trait but do not have the disease, your doctor will screen you yearly to check for tumors. In a small percentage of families with MEN, no mutation is found on genetic testing; however, researchers believe that these families may have a rare mutation that has not been identified yet and, thus, is not part of the genetic test. A genetic counselor or another health care professional trained in genetics can help you decide if you should be tested, and will help your family understand genetic test results.

Treatment for Multiple Endocrine Neoplasia
Treatment depends on the glands affected by the disease and typically involves surgical removal of part or all the affected glands:  

  • Medullary thyroid carcinoma: Surgery to remove the thyroid and surrounding lymph nodes is used. In young people known to carry the MEN2 genetic mutation, the thyroid may be removed before it develops cancer.
  • Parathyroid tumors: Surgery to remove all or almost all the 4 parathyroid glands are recommended. 
  • Pheochromocytoma: Surgery to remove the entire diseased adrenal gland is used in most cases.
  • Pituitary tumors: Treatment may involve medication or surgery to remove the entire pituitary gland or part of the gland, and possibly radiation to treat any areas of the gland that cannot be removed.
  • Pancreatic tumors: Treatment may involve surgical removal of tumors. In patients whose tumors produce too much stomach acid; a medication may be given to reduce the risk for ulcers.  

When glands are removed or do not produce enough hormones, you may need to take hormone replacement therapy every day.

Summary
While MEN is rare, it is an important disease to recognize and diagnose as it may not only help the patient but their family members.

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Multiple Endocrine Neoplasia: MEN Types 1 and 2
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