Description

Multiple endocrine Neoplasia type 2, also called of MEN 2, is a rare condition. To cause tumors in the thyroid and parathyroid glands, adrenal glands, the mouth, lips, eyes and digestive tract. Genetic testing can find the mutation that causes MEN to 2 . Health care providers can treat the health problems that the gene can cause.

MEN 2) is an inherited disorder. This means that people who have the altered gene can pass on to your children. Each child has a 50% chance of developing the disorder.

Types of

There are two types of MEN 2 :

  • MEN 2A. This is also known as the classic of MEN 2A syndrome or Sipple. Cause medullary thyroid cancer and benign tumors of the parathyroid and adrenal glands.
  • MEN 2B. This type of MEN 2 is rare. Cause medullary thyroid cancer, benign tumors of the adrenal gland, and the non-cancerous tumors on the lips, on the tongue and in the digestive tract. MEN 2B does not cause problems with the parathyroid glands.

Symptoms

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

Medullary thyroid cancer:

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

Parathyroid hyperplasia, also known as primary hyperparathyroidism:

  • Muscle and joint pain
  • Constipation
  • Fatigue
  • Memory problems
  • Stones in the kidney

Adrenal tumors, also known as pheochromocytoma:

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

The symptoms can be caused by a thyroid tumor pressing on the tissues around it, or by the release of too many hormones in the body. Some people who have medullary thyroid cancer may not have symptoms.

When to see a doctor

If you have any of these symptoms, contact your health care provider.

Causes

MEN 2 is a hereditary disease. This means that someone who has an altered gene that can cause MEN 2 can pass the gene on to their children.

Many people can also be the first person in his family to have this disorder. People diagnosed with medullary thyroid cancer are reviewed periodically for MEN 2 .

Complications

MEN 2 may cause the parathyroid glands make too much calcium in the blood. This is known as primary hyperparathyroidism. The parathyroid glands are located in your neck. The excess calcium in the blood can cause many problems, including the weakness of the bones, osteoporosis, kidney stones and having to pee a lot. Medullary thyroid cancer is shown as a mass in the thyroid gland or in the neck. It can be difficult to swallow when the tumor is large or other symptoms if the cancer spreads outside of the neck.

People with MEN-2 may also have a condition called pheochromocytoma. This condition causes non-cancerous tumors of the adrenal gland. The adrenal glands are located on 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 a person has an altered gene that causes MEN 2 . The children of someone who has changed this gene could inherit and develop MEN 2 . Parents and siblings may also have changed genes, even if they have no symptoms.

If someone in your family is diagnosed with MEN 2 , your doctor will probably recommend that you and the members of your family have genetic testing. This is because MEN 2 can be treated or controlled by the removal of the thyroid gland early in life. Be examined by parathyroid or adrenal tumors may also help.

If there are changes in the genes are found in members of the family, there is usually no other screening tests are needed. However, genetic testing is not to find all the MEN 2 gene changes. If MEN 2 is not in the people that have it, they and their families have regular blood and imaging tests through time to check if there are any signs of the disease.

Diagnosis

For the diagnosis of multiple endocrine neoplasia type 2, also called of MEN 2, your health care provider will perform a physical exam. They will look at your medical history and family history. Also genetic testing is done to see if you have a change in the gene that makes MEN 2 . Blood and urine tests, and imaging tests may be done. These may include:

  • Calcitonin levels in the blood
  • The calcium in the blood
  • Levels of parathyroid hormone
  • Urine or plasma test of catecholamines and metanephrines
  • Magnetic resonance imaging (MRI)
  • Computed tomography (CT scan)
  • Ultrasound

Treatment

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

  • Medullary thyroid cancer. Cancer of the thyroid, including cancer that has spread to other parts of the body, is treated by the removal of the thyroid gland, and lymph nodes around him with the surgery. Medications can also be used if the disease has spread and cannot 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 part or all of the parathyroid glands that are enlarged, leaving any glands that are not affected.
  • Adrenal tumors. For these types of tumors, your doctor will likely recommend removal of one or both adrenal glands, depending on what is shown in the ct scan or magnetic resonance imaging .

Preparing for your appointment

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

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

What you can do

When you make the appointment, ask if there is something that you need to do beforehand. This could include not eating for a certain amount of time before you have a specific test. Make a list of:

  • Your symptoms , including any that seem unrelated to the reason for your appointment
  • Key personal information , including major stresses, recent life changes, and the medical history of the family
  • All the medications, vitamins, or other supplements you are taking, including dose
  • Questions to ask your provider

Have a friend or family member, if possible. They can help you remember the information they give you.

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

  • What is likely causing my symptoms?
  • Other that the most likely cause, what are other possible causes of the symptoms?
  • What tests do I need?
  • What is the best course of action?
  • What are the alternatives to the primary approach you're suggesting?
  • You could develop thyroid cancer?
  • You could develop benign tumors?
  • Is there anything I can do to reduce my risk of getting cancer?
  • Should I have genetic testing?
  • I have these other health conditions. How can I best manage them together?
  • There are restrictions that must be followed?
  • You should see a specialist?
  • Are there brochures or other printed material I can have? What sites do you recommend?

Do not hesitate to ask other questions.

What to expect from your doctor

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

  • When did your symptoms begin?
  • The symptoms been continuous or occasional?
  • How severe are the 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 something that seems to make your symptoms worse.

Symptoms and treatment of Multiple endocrine neoplasia type 2 (MEN 2)