Learn about this rare disorder that causes tumors and overproduction of hormones.
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.
There are two types of MEN 2:
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:
Parathyroid hyperplasia, also known as primary hyperparathyroidism:
Adrenal tumors, also known as pheochromocytoma:
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.
If you're having any of these symptoms, contact your health care provider.
People with MEN 2B have tumors of nerves in the lips, mouth, eyes and digestive tract. They also may have a tumor on the adrenal gland, called pheochromocytoma, and medullary thyroid cancer.
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.
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.
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.
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:
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:
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.
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:
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:
Don't hesitate to ask other questions.
Your health care provider is likely to ask you several questions, such as:
Do not do anything that seems to worsen your symptoms.