Pheochromocytoma is a rare tumor originating in the adrenal glands, specifically, the medulla of adrenal glands. Pheochromocytoma-related signs and symptoms are caused by the presence of an excess amount of hormones called catecholamines. These hormones include norepinephrine (noradrenaline), epinephrine (adrenaline), and rarely a very high amount of dopamine.
What is paraganglioma?
Paraganglioma is a tumor that is closely related to pheochromocytoma. It originates from outside the adrenal glands, specifically from the parasympathetic or sympathetic nervous system. Paragangliomas are much less common than pheochromocytomas. Just like pheochromocytoma, paraganglioma-related signs and symptoms are also caused by the presence of an excess amount of catecholamines.
How common are pheochromocytoma and paraganglioma?
Pheochromocytomas are diagnosed in 1 to 6 per million people per year. There are approximately 500 to 1,100 cases per year in the United States. The condition occurs most commonly at age 30-50 and is found in about 0.1%-0.5% of patients with high blood pressure. Paragangliomas occur in approximately 15%-20% of individuals diagnosed with pheochromocytoma.
How is pheochromocytoma or paraganglioma diagnosed?
Pheochromocytoma is usually diagnosed using blood or urine tests that measure the level of metabolic products (from chemical reactions) of the hormones released by the tumor. Levels of more than 4-fold above normal usually indicate the presence of the tumor. Tumor localization testing is used to locate a tumor after biochemical tests confirmed the presence of pheochromocytoma or paraganglioma. For patients with a hereditary predisposition or a previous history of this condition, including metastatic disease, whole body tumor localization testing is highly recommended to rule out any multiple or metastatic tumors. The most commonly used tumor localization tests include computed tomography (CT) or magnetic resonance imaging (MRI).
How is pheochromocytoma or paraganglioma treated?
Pheochromocytoma or paraganglioma, if detected early and treated properly, can be cured in 90% of cases. The treatment of choice is surgery. Chemotherapy or radiotherapy as a treatment option is currently being tested in clinical trials.
What are the common signs and symptoms of the condition?
The most common sign of pheochromocytoma and paraganglioma is uncontrolled elevated hypertension. Other signs and symptoms are wide ranging and include:
- High blood pressure
- Anxiety, nervousness, or panic attacks
- Shortness of breath
- Visual problems
If I have pheochromocytoma or paraganglioma, is there a risk that my children will also have the condition?
Up to about 24% of patients with pheochromocytoma or paraganglioma will have a family member with the same condition. Inherited mutations in 6 genes have been found to be responsible for the disease. These genes are von Hippel-Lindau (VHL) gene, Rearranged during transfection (RET) gene, neurofibromatosis type 1 (NF-1) gene, and succinate dehydrogenase subunit (SDH) genes (SDHB, SDHC, SDHD). Genetic testing is recommended for most patients with pheochromocytoma or paraganglioma. Once a specific mutation is found, stepwise family testing is advised (eg, parents first). When relatives are found to have the mutation, additional testing is suggested to determine whether pheochromocytoma or paraganglioma is present.
Do I need to change my lifestyle if I have been diagnosed with pheochromocytoma or paraganglioma?
If you have been diagnosed with pheochromocytoma or paraganglioma, you may need to make several adjustments to your lifestyle. Many medications can further stimulate the release of the excess hormones, which may increase the severity of the condition. The consumption of these medications should therefore be reduced or avoided. These medications include:Medications for obesity management: phentermine (Adipex, Fastin, Zantryl), phendimetrazine (Bontril, Adipost, Plegine), methamphetamine (Desoxyn), and phenylethylamine (Fenphedra), sibutramine (Meridia)Nasal decongestants containing ephedrine, pseudoephedrine, or phenylpropanolamineAntidepressants: amitriptyline (Elavil, Endep), nortriptyline (Aventyl, Pamelor), edronax (Reboxitine), duloxetine (Cymbalta), venlafaxine (Effexor)Antipsychotic and antiemetic drugs: metoclopramide (Reglan), chlorpromazine (Thorazine), and prochlorperazine (Compazine)Monoamine oxidase inhibitors: deprenyl (Selegiline), linezolid (Zyvox)Glucagon, steroids, histamine, angiotensin II, and vasopressinPseudoephedrineCocaine
How often is the condition cancerous? Is there a cure for that?
Malignancy is up to 36% of patients; however, incidence can be much higher in patients with SDHB gene mutations. The current treatment options for cancerous pheochromocytoma or paraganglioma do not offer a cure; however, they may prolong survival.