Multiple Endocrine Neoplasia, Type 1 (MEN 1)

A person is diagnosed with MEN type 1 if they have at least two of the three endocrine tumors associated with the condition (parathyroid tumor, pituitary tumor and/or a tumor in the gastroenteropancreatic tract) or if they have one of the associated tumors and a family history of MEN type 1.

What tests are used to diagnose MEN type 1?

Before a healthcare provider can diagnose MEN type 1, they need to diagnose one or more different types of tumors in the individual. A variety of blood tests can detect elevated levels of certain hormones, which can be a sign of certain tumors. For example, higher-than-normal levels of parathyroid hormone (PTH) in addition to hypercalcemia (excess calcium in your blood) can indicate the presence of a parathyroid tumor.

Healthcare providers then use imaging tests, such as CT (computed tomography) scans or MRI (magnetic resonance imaging) scans, to help find and diagnose tumors.

Providers can also confirm a MEN type 1 diagnosis through genetic testing of the MEN1 gene.

How is multiple endocrine neoplasia type 2 diagnosed?

A person is diagnosed with MEN type 2 if they have medullary thyroid cancer (MTC) and pheochromocytoma and/or parathyroid enlargement (hyperplasia) or tumor (adenoma).

What tests are used to diagnose MEN type 2?

Before a healthcare provider can diagnose MEN type 2, they need to diagnose medullary thyroid cancer (MTC) and other types of tumors in the individual.

A variety of blood tests can detect elevated levels of certain hormones, which can be a sign of MTC and other tumors. For example:

• Higher-than-normal levels of calcitonin can indicate MTC.
• Higher-than-normal levels of parathyroid hormone (PTH) can indicate a parathyroid tumor (adenoma) or hyperplasia.
• Higher-than-normal levels of catecholamines (a group of hormones produced by your adrenal glands) may indicate pheochromocytoma.

Healthcare providers then use imaging tests, such as CT (computed tomography) scans or MRI (magnetic resonance imaging) scans, to help find and diagnose tumors associated with MEN type 2.

Providers can also confirm a MEN type 2 diagnosis through genetic testing of the RET gene.