Paraganglioma

Since paraganglioma is a rare tumor and is sometimes asymptomatic, it can be difficult to diagnose. Healthcare providers sometimes find paragangliomas when they order a test or procedure for another reason.

A provider may suspect a diagnosis of paraganglioma after reviewing the following factors:

• A detailed medical history, including previous pheochromocytoma or paraganglioma cases in your family.
• A thorough physical and medical evaluation.
• Certain symptom characteristics, such as high blood pressure that’s unresponsive to standard treatment.

What tests are used to diagnose paraganglioma?

Your healthcare provider may use the following tests and procedures to diagnose paraganglioma:

• Physical exam: Your provider will perform a physical exam of your body to check general signs of health, such as your blood pressure. They will also ask you about your medical history, including your family’s medical history as it relates to endocrine issues.
• 24-hour urine test: This type of urine (pee) test involves collecting samples of your urine for 24 hours to measure the amounts of adrenal hormones called catecholamines in your urine. Substances that result from the breakdown of these hormones are also measured. Higher-than-normal amounts of certain catecholamines in your urine may be a sign of paraganglioma.
• Blood catecholamine tests: These tests measure the level of catecholamines in your blood. Substances that result from the breakdown of these hormones are also measured. Higher-than-normal amounts of certain catecholamines in your blood may be a sign of paraganglioma.
• PET scan (positron emission tomography scan): A positron emission tomography (PET) scan uses a safe injectable radioactive chemical called a radiotracer and a device called a PET scanner to produce images of your organs and tissues. The scanner detects metabolically active cells and tumors that absorb large amounts of the radiotracer, which indicates a potential health problem. This imaging test is particularly good for determining the location of paragangliomas.
• CT scan (computer tomography scan): A CT scan is an imaging procedure that takes a series of X-ray images from different angles to provide detailed pictures of areas inside your body. Your provider may recommend a CT scan so that they can determine where the tumor is (most commonly in the neck area).
• MRI (magnetic resonance imaging): An MRI is an imaging procedure that uses a magnet, radio waves and a computer to make a series of detailed pictures of areas inside your body. Your provider may recommend an MRI so that they can look at the region of your body where the tumor is located.

After your provider has diagnosed you with paraganglioma, they’ll likely perform additional tests to see if it has spread to other parts of your body.

Is there genetic testing for paraganglioma?

If you’re diagnosed with paraganglioma, your provider will likely recommend genetic counseling to find out your risk for having an inherited syndrome and associated cancers.

Your healthcare provider may recommend genetic testing if any of the following situations apply to you:

• You have a personal or family history of traits linked with inherited pheochromocytoma or paraganglioma syndrome.
• You have signs or symptoms of higher-than-normal catecholamine levels in your blood or cancerous paraganglioma.
• You’ve been diagnosed with paraganglioma before age 40.

If your genetic counselor finds certain gene changes in your testing results, they will likely recommend that your family members who are at risk but don’t have signs or symptoms be tested as well.