Multiple endocrine neoplasia, type 2 (MEN 2)

Overview

Multiple endocrine neoplasia, type 2, also called MEN 2, is a rare condition. It causes tumors in the thyroid and parathyroid glands, adrenal glands, lips, mouth, eyes and digestive tract. Genetic testing can find the changed gene that causes MEN 2. Health care providers can treat the health issues that gene may cause.

MEN 2 is an inherited disorder. This means people who have the changed gene can pass it on to their children. Each child has a 50% chance of getting the disorder.

Types

There are two types of MEN 2:

• MEN 2A. This also is known as classical MEN 2A or Sipple syndrome. It causes medullary thyroid cancer and noncancerous tumors of the parathyroid glands and adrenal glands.
• MEN 2B. This type of MEN 2 is rare. It causes medullary thyroid cancer, noncancerous tumors of the adrenal gland, and noncancerous tumors on the lips, on the tongue and in the digestive tract. MEN 2B does not cause problems with the parathyroid glands.

Symptoms

Symptoms of MEN 2 depend on the type of tumor. People who have MEN 2B have a unique appearance. They may have bumps on the tongue, lips and eyes. They tend to be tall and thin with long arms and legs. Following are symptoms that may be related to each tumor type.

Medullary thyroid cancer:

• Lumps in the throat or neck
• Trouble breathing or swallowing
• Hoarseness
• Diarrhea

Parathyroid hyperplasia, also known as primary hyperparathyroidism:

• Muscle and joint pain
• Constipation
• Fatigue
• Memory problems
• Kidney stones

Adrenal tumors, also known as pheochromocytoma:

• High blood pressure
• Rapid heart rate
• Anxiety
• Headaches

Symptoms may be caused by a thyroid tumor pressing on tissues around it or by the release of too many hormones in the body. Some people who have medullary thyroid cancer may have no symptoms.

When to see a doctor

If you're having any of these symptoms, contact your health care provider.

Causes

MEN 2 is an inherited condition. This means someone who has a changed gene that can cause MEN 2 can pass that gene on to their children.

Many people also may be the first person in their families to have this disorder. People diagnosed with medullary thyroid cancer are screened regularly for MEN 2.

Complications

MEN 2 can cause the parathyroid glands to put too much calcium into the blood. This is known as primary hyperparathyroidism. The parathyroid glands are located in your neck. The extra calcium in the blood can cause many issues, including weak bones, called osteoporosis, kidney stones and having to urinate a lot. Medullary thyroid cancer shows up as a lump on the thyroid or neck. It can be hard to swallow when the tumor is large or other symptoms if the cancer spreads outside the neck.

People with MEN 2 also can have a condition called pheochromocytoma. This condition causes noncancerous tumors on an adrenal gland. The adrenal glands are located at the top of the kidneys. These tumors can release hormones that cause high blood pressure, sweating and other symptoms.

Prevention

Genetic testing is used to find out if someone has a changed gene that causes MEN 2. Children of someone who has this changed gene could inherit it and develop MEN 2. Parents and siblings also could have the changed gene even if they don't have symptoms.

If someone in your family is diagnosed with MEN 2, your health care provider will likely recommend you and your family members have genetic testing. This is because MEN 2 can be treated or managed by removing the thyroid gland early in life. Being screened for parathyroid or adrenal tumors also can help.

If no gene changes are found in family members, usually no other screening tests are needed. However, genetic testing doesn't find all MEN 2 gene changes. If MEN 2 isn't found in people who may have it, they and their family members will have regular blood and imaging tests over time to check for signs of the disease.

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 an 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.