Diagnosis

To diagnose multiple endocrine neoplasia, type 2, also called MEN 2, your health care provider will do a physical exam. They will look at your medical history and family history. They also will do genetic testing to see if you have a gene change that causes MEN 2. Blood and urine tests and imaging tests may be done. These may include:

  • Calcitonin levels in the blood
  • Blood calcium
  • Parathyroid hormone levels
  • Urine or plasma testing for catecholamines and metanephrines
  • Magnetic resonance imaging (MRI)
  • Computerized tomography (CT) scan
  • Ultrasound scan

Treatment

In MEN 2, tumors can grow on the thyroid, parathyroid and adrenal glands. These tumors can lead to various conditions, all of which can be treated. These conditions and treatments may include:

  • Medullary thyroid cancer. Thyroid cancer, including cancer that has spread to other parts of the body, is treated by removing the thyroid gland and the lymph nodes around it with surgery. Medicines also can be used if the disease has spread and can't be removed with surgery.
  • Parathyroid enlargement. The parathyroid glands can become enlarged and make too much parathyroid hormone. The usual treatment is surgery to remove all or part of the parathyroid glands that are enlarged, while leaving any glands that are not affected.
  • Adrenal tumors. For these types of tumors, your health care provider will likely recommend removing one or both of the adrenal glands, depending on what is shown on the CT or MRI.

Preparing for your appointment

You may start by seeing your health care provider. Or you may be sent to a specialist in conditions that affect the hormones, also known as an endocrinologist.

Here's some information to help you get ready for your appointment.

What you can do

When you make the appointment, ask if there's anything you need to do in advance. This could include not eating for a certain amount of time before having a specific test. Make a list of:

  • Your symptoms, including any that seem like they're not related to the reason for your appointment
  • Key personal information, including major stresses, recent life changes and family medical history
  • All medications, vitamins or other supplements you take, including the doses
  • Questions to ask your provider

Take a family member or friend along, if possible. They can help you remember the information you're given.

For MEN 2 some basic questions to ask your health care provider include:

  • What's likely causing my symptoms?
  • Other than the most likely cause, what are other possible causes for my symptoms?
  • What tests do I need?
  • What's the best course of action?
  • What are the alternatives to the primary approach you're suggesting?
  • Could I develop thyroid cancer?
  • Could I develop noncancerous tumors?
  • Is there anything I can do to lower my risk of getting cancer?
  • Should I have genetic testing?
  • I have these other health conditions. How can I best manage them together?
  • Are there restrictions I need to follow?
  • Should I see a specialist?
  • Are there brochures or other printed material I can have? What websites do you recommend?

Don't hesitate to ask other questions.

What to expect from your doctor

Your health care provider is likely to ask you several questions, such as:

  • When did your symptoms begin?
  • Have your symptoms been continuous or occasional?
  • How severe are your symptoms?
  • What, if anything, seems to improve your symptoms?
  • What, if anything, appears to worsen your symptoms?

What you can do in the meantime

Do not do anything that seems to worsen your symptoms.

By Mayo Clinic Staff