Multiple Endocrine Neoplasia (MEN): What to Expect

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If you have been told that you have multiple endocrine neoplasia (MEN) syndrome, then you know that there is a fairly extensive evaluation and treatment for this rare condition.

The Definition of MEN 

Multiple endocrine neoplasia (MEN) is a medical illness that is characterized by having more than one tumor of the endocrine organs at a time. There are several different combinations of endocrine tumors that are known to occur together, and each of these patterns is categorized as one of several different (MEN) syndromes.

The tumors that develop as part of each MEN syndrome may be benign or malignant. Benign tumors are self-limited tumors that can cause medical symptoms, but grow slowly, do not spread to other parts of the body and are not fatal. Malignant tumors, on the other hand, are cancerous tumors that can grow rapidly, may spread to other parts of the body, and can even be fatal if they are left untreated.

The MEN Syndromes 

There are three syndromes that are considered the most common MEN syndromes. Each syndrome is caused by a specific genetic abnormality, which means that the tumor combination runs in families as a hereditary condition. The MEN syndromes are called MEN 1, MEN 2A, and MEN 2B.

MEN 1: People diagnosed with MEN 1 have tumors of the pituitary gland, the parathyroid gland, and the pancreas. Generally these tumors are benign, although it is not impossible for them to become malignant.

MEN 1 Symptoms: The symptoms of MEN 1 can begin during childhood or during adulthood.

The symptoms themselves are variable because the tumors involve endocrine organs that can produce a wide a range of effects on the body. Each of the tumors cause abnormal changes related to hormonal overactivity.

  • Pituitary tumors cause headaches, menstrual irregularities, infertility, breast milk production, and overgrowth of the bones. 
  • Pancreatic tumors cause stomach pain, vomiting, diarrhea, and ulcers. 
  • Parathyroid tumors cause elevated calcium levels, which may produce kidney stones as the first noticeable symptom. 

MEN 2A: Individuals with MEN 2 have thyroid tumors, adrenal gland tumors, and parathyroid tumors.

MEN 2A Symptoms: The symptoms of MEN 2A begin in adulthood; typically when a person is in his or her 30s. As with the other MEN syndromes, the symptoms result from overactivity of the endocrine tumors.

  • Thyroid tumors are usually the first noticeable tumors in MEN 2A, and they can result in swelling or pressure in the neck region, and they may become malignant.
  • Adrenal gland tumors, called pheochromocytoma, specifically involve the section of the adrenal glad called the adrenal medulla. Pheochromocytoma can cause high blood pressure, rapid heart rate, and sweating.
  • Parathyroid tumors can result in high calcium levels, and the symptoms may include excessive thirst and frequent urination.

MEN 2B: This is the least common of these rare tumor patterns and is characterized by thyroid tumor, adrenal gland tumor, neuromas (cysts) throughout the mouth and digestive system, abnormalities of bone structure, and an unusually tall and skinny stature described as marfanoid features.

MEN 2B Symptoms: The symptoms can begin in childhood, often before age 10. The most obvious symptom of MEN 2B is a tall, lanky appearance. Neuromas appear as growths in and around the mouth, and people with MEN 2B may have stomach and digestive problems, in addition to the symptoms of thyroid cancer and pheochromocytoma.

Diagnosis of MEN

Your doctor would be concerned that you may have MEN syndrome based on a pattern of more than one endocrine tumor, along with your family history. You do not need to have all of the signature tumors of one of the MEN syndromes for your doctor to consider MEN. If you have more than one tumor or characteristic, or even if you have one endocrine tumor that is associated with MEN, then your doctor might evaluate you for other tumors before they become symptomatic.

Similarly, a family history is not necessary for MEN diagnosis, because a person can be the first in the family to have the disease. The specific genes that cause MEN have been identified, and genetic testing may be an option in confirming the diagnosis.

There is also a degree of variability with each MEN syndrome—you might have MEN even if you do not perfectly fit into one of the typical tumor patterns.

Treatment of MEN

The treatment for all of the MEN syndromes depends on a few different factors. Not everyone who is diagnosed with MEN 1, MEN 2A, or MEN 2B experiences the same exact disease course. Generally, treatment is focused on three main objectives, which includes reducing symptoms, detecting tumors early, and preventing the consequences of malignant tumors.

If you have symptoms caused by hormonal irregularities, you will probably need treatment for those symptoms. Endocrine diseases often fluctuate over time, because the endocrine organs operate based on a complex balance of positive and negative feedback. This means that hormones that become overactive may end up suppressing or stimulating the production of other hormones in the body. Therefore, even if you receive hormonal treatment for a while, you might need a different treatment or an adjustment of your dose in the future.

The other important aspects of MEN treatment involve careful surveillance and monitoring to identify new tumors and to spot any malignancy as early as possible. Malignant tumors may need to be treated with surgery or chemotherapy before they cause more substantial health problems.

A Word From Verywell 

Any type of tumor can be scary. And having more than one tumor is even more frightening. If you have been told that you have or might have multiple endocrine neoplasia, then you are probably quite concerned about which symptoms could pop up next and whether your overall health is in danger.

The fact that MEN syndromes are recognized and classified makes your situation more predictable than it may seem. Despite the fact that these are rare syndromes, they have been defined in great detail and there are well-established methods of managing these illnesses. While you will certainly need consistent medical follow up, there are effective ways of controlling your condition and you can absolutely rest assured that with close medical care, you can have a healthy outcome.

Source:

Wasserman JD, Tomlinson GE, Druker H, et al. Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in ChildhoodClin Cancer Res. 2017 Jul 1;23(13):e123-e132.

 

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