Multiple Endocrine Neoplasia: Genetic Testing and Treatment

Written by Priyathama Vellanki MD

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:

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:  

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.

Sources

American Multiple Endocrine Neoplasia Support. Genetics of MEN.
http://www.amensupport.org/genetics-of-men-1/. Accessed September 15, 2014.

Genetics Home Reference. Multiple endocrine neoplasia. http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia. Accessed September 15, 2014.

Kloos RT, Eng C, Evans DB, et al.: Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid. 2009;19(6):565-612. 

Medline Plus. Multiple endocrine neoplasia (MEN) I.
http://www.nlm.nih.gov/medlineplus/ency/article/000398.htm. Accessed September 15, 2014.

Medline Plus. Multiple endocrine neoplasia (MEN) II. http://www.nlm.nih.gov/medlineplus/ency/article/000399.htm.  Accessed September 15, 2014.

National Cancer Institute. Genetic testing for hereditary cancer syndromes. http://www.cancer.gov/cancertopics/factsheet/Risk/genetic-testing. Accessed September 15, 2014.

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Multiple Endocrine Neoplasia: MEN Types 1 and 2