Pheochromocytomas (pheo) and paragangliomas (ppgl) are adrenaline-producing adrenal tumors. This means they produce the hormones epinephrine (pheochromocytoma only) and norepinephrine, which are your “flight or fight” hormones.

Pheochromocytomas are adrenal tumors that are found in the in center, or medulla area, of the adrenal gland whereas paragangliomas (also referred to as ‘extra-adrenal pheochromocytomas’) are found outside the adrenal gland in the peripheral nervous system, most commonly along the aorta or in the neck by the carotid artery. Both can be either benign or malignant, and sometimes that distinction can be difficult to diagnose.

Symptoms

Pheochromocytoma Symptoms

  • Common pheochromocytoma/PPGL symptoms may include: high blood pressure, either continuous or episodic, palpitations, headaches, and sweating.
  • There are many other less common, non-specific pheochromocytoma symptoms.
  • Some people don’t have any obvious, overt symptoms of pheochromocytoma. This is called ‘subclinical pheochromocytoma’ (if it’s an adrenal tumor). About half of all paragangliomas don’t produce any obvious symptoms
  • Sometimes, symptoms may occur after a procedure or eating certain foods.
Risk Factors

Pheochromocytoma and Paraganglioma Risk Factors

The only known risk factors for pheos and ppgls are certain genetic syndromes and mutations.

The most common of these are: Multiple Endocrine Neoplasia Syndrome types 2A and 2B (MEN 2A and 2B)[H1], von Hippel-Lindau Syndrome (VHL) , Neurofibromatosis 1 (NF1) , Familial Paraganglioma Syndromes (SDH mutations such as SDHA, SDHB, SDHC,SDHD).

Genetic Testing: 
Newer recommendations are for all patients to be referred to genetic counselor for consideration of genetic testing. Patients that have a family history, are young (< 40 years old), or have bilateral pheochromocytomas or a ppgl are most likely to have genetic mutation.

Diagnosis

Diagnosis of Pheochromocytoma (and PPGL)

A Pheochromocytoma diagnosis is made through a series of blood tests, sometimes urine tests, and imaging. There is no role for needle biopsy of these adrenal tumors and it’s contraindicated.

  • Blood/urine tests specific for a pheo: 
    Plasma free metanephrines (best screening test) or urinary fractionated metanephrines are the two most common. Other blood/urine tests may be run to rule our other diagnoses that can have overlapping symptoms and for greater specificity. Certain medications can give a false positive result, so if your numbers are mildy elevated your physician may choose to repeat your labs and/or adjust your medications first.
  • Imaging: 
    CT or MRI scan of chest, abdomen, and pelvis with IV contrast. Occasionally, an MIBG or PET scan is ordered to help make the diagnosis.
Treatments

Pheochromocytoma Treatment (and PPGL)

The only treatment for a pheochromocytoma or paraganglioma is surgery to remove your adrenal gland (which includes your adrenal nodule), which should be performed by a specialized adrenal, endocrine surgeon.

For a pheochromocytoma, this involves an adrenalectomy, usually done via a minimally invasive, laparoscopic approach. However, if there is concern for, or a diagnosis of cancer, an open adrenalectomy may be performed. For patients with certain genetic mutations, occasionally a partial adrenalectomy may be offered.

The majority of paragangliomas are removed with open surgery, though occasionally a minimally invasive laparoscopic technique can be used.

Follow Up

Follow Up

Pheochromocytomas and paragangliomas can come back either in the same area, the other adrenal gland, or in other areas in the body. All patients need lifelong follow-up with an endocrinologist and possibly your surgeon to monitor for recurrence.

This will be done with blood tests to measure hormone levels. Additionally, all patients should be referred for genetic testing.