Pheochromocytomas and paragangliomas are endocrine tumors, which means they grow in parts of the body that produce hormones. (1)
These tumors can form spontaneously, for no known reason, or they may develop because of a faulty gene (mutation).
Pheochromocytomas and paragangliomas are usually benign (noncancerous), but they can be malignant (cancerous) and spread to other parts of the body.
The good news is that there are a number of effective ways to treat these tumors and alleviate symptoms. (2)
What Is a Pheochromocytoma?
A pheochromocytoma is a tumor that forms in one or sometimes both of the two adrenal glands, located on top of the kidneys. The adrenal glands make hormones like adrenaline and noradrenaline, which are crucial to the body’s fight-or-flight response to stress. (2,3)
Pheochromocytomas can cause the adrenal gland to produce too many hormones, leading to high blood pressure and a variety of other symptoms. (4)
Tumors are usually benign, but about 1 in 3 are cancerous and may metastasize (spread) to other parts of the body. (5)
Pheochromocytomas are rare, with one rough estimate suggesting only 8 of 1 million people have pheochromocytoma. (6)
This type of tumor most often affects people who are between 20 and 50 years old, but pheochromocytomas can develop in patients of any age. (7)
Symptoms of Pheochromocytoma
Signs of a pheochromocytoma may include:
- High blood pressure
- Rapid heartbeat
- Paleness in the face
- Shortness of breath
- Weight loss
- Constipation (3)
Triggers of Pheochromocytoma
Symptoms of a pheochromocytoma may be constant, begin suddenly without warning, or be triggered by one of the following:
- Physical activity
- Stress or anxiety
- A change in body position
Foods or drinks containing high levels of a substance called tyramine (a naturally occurring amino acid) can also cause flare-ups. Cheese, chocolate, smoked meat, wine, and beer can all be problematic.
Drugs such as monoamine oxidase inhibitors (MAOIs, used to treat depression) and stimulants can also bring on symptoms. (3)
Doctors may be able to detect a pheochromocytoma by performing one or more of the following tests:
- Blood tests
- Urine tests
- Imaging tests, such as a computerized tomography (CT) scan, magnetic resonance imaging (MRI), M-iodobenzylguanidine (MIBG) scan, or positron emission tomography (PET) scan (3)
Treatment Options for Pheochromocytoma
Surgery to remove the tumor and the affected adrenal gland is the preferred treatment for pheochromocytomas, although in unusual instances surgeons may take out just the tumor and leave the adrenal gland in place.
Doctors usually perform this operation laparoscopically, making a few tiny incisions in the skin and inserting a long, thin, wand-like device containing a video camera and small surgical tools. Laparoscopy is much less invasive than traditional surgery.
Patients usually receive medication before surgery to lower the risk of developing dangerously high blood pressure while on the operating table.
After surgery, the remaining adrenal gland compensates for the one that was removed, and blood pressure typically returns to normal.
If the tumor is cancerous, patients may receive additional treatments, such as:
- Chemotherapy Also known simply as chemo, this treatment uses powerful drugs to kill cancer cells.
- Radiation Treatment Radiation delivered to a specific site in the body zaps cancer cells.
- Targeted Therapies Cutting-edge medicines zero in on specific cancer cell targets. (3)
What Is a Paraganglioma?
A paraganglioma (also known as an extra-adrenal pheochromocytoma) is a tumor that develops in certain nerve cells located throughout the body.
Paragangliomas are most commonly found in the abdomen but can grow in the skull area, neck, chest cavity, pelvis, or bladder. (8)
In about one-half of all cases, paragangliomas produce too much of the hormone adrenaline, which can cause high blood pressure and other symptoms.
Doctors in the United States diagnose paragangliomas in only about 2 per 1 million people each year. (9)
These tumors can be benign or cancerous, but doctors can’t necessarily tell with a biopsy (looking at a sample of cells under a microscope). The only way to make a definitive cancer diagnosis is to see if cells have spread to other areas of the body. (9)
Paragangliomas can affect anyone at any age but most often appear in people who are between 30 and 50 years old. (10)
Types of Paraganglioma (Including Glomus Jugulare Tumors)
There are a number of different types of paraganglioma, classified by their location in the body.
A glomus jugulare tumor is a type of paraganglioma that forms near the base of the skull, in an area called the jugular foramen. (11)
These tumors are almost always benign, but they can spread and cause symptoms, such as:
- Hearing problems
- Difficulty swallowing
- Weakness in the facial muscles (12)
Symptoms of Paraganglioma
Signs of a paraganglioma may include:
- High blood pressure
- Rapid heartbeat
- Difficulty breathing
- Pale skin
- Blurred vision
- Weight loss
- Abdominal pain
- High blood sugar
- Constipation (9)
Doctors may be able to diagnose a paraganglioma by performing:
- Blood tests
- Urine tests
- Imaging tests, such as a CT scan, MRI, or PET scan (10)
Treatment Options for Paraganglioma
When treating a patient with a paraganglioma, doctors might first try to get blood pressure under control with drugs known as alpha-blockers and beta-blockers.
Surgery to remove the tumor is usually considered the optimal approach. Prior to the procedure, patients might take medication to counteract the effects of certain hormones produced by the tumor.
Surgeons can remove most paragangliomas using minimally invasive laparoscopic methods. (9)
For very slow-growing tumors, physicians may opt for a watch-and-wait approach, holding off on surgery for as long as possible while regularly monitoring the patient.
Other treatments for a paraganglioma might include radiation therapy, which can help control tumor growth, and thermal ablation therapy, which involves destroying tumor deposits with heat. (10)
Treatment Options for Glomus Jugulare Tumors
Doctors typically remove glomus jugulare tumors (paragangliomas near the base of the skull) by performing one of the following procedures:
- Craniotomy This surgery involves removing part of the skull in order to access the brain.
- Endoscopic Endonasal Surgery In this procedure, surgeons operate on areas of the brain and spine by inserting a long, thin device called an endoscope through an incision in the back of the nose.
If surgery isn’t an option, doctors may turn to a treatment called stereotactic radiosurgery that uses focused radiation beams to destroy tumors. (11)
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Paraganglioma vs. Pheochromocytoma: What’s the Difference?
Both paragangliomas and pheochromocytomas are rare tumors that develop in hormone-producing tissue. A pheochromocytoma is considered a type of paraganglioma (13)
A key difference is that pheochromocytomas are tumors that grow in the adrenal glands, while paragangliomas are tumors that develop outside the adrenal glands.
Both types of tumors can cause similar symptoms and are often treated the same way. (2)
Risk Factors for Pheochromocytomas and Paragangliomas
Certain genetic disorders can increase the risk of developing a pheochromocytoma or paraganglioma. These include:
- Multiple Endocrine Neoplasia, Type 2 (MEN 2) This condition causes one or more of the endocrine glands to become overactive or form a tumor.
- Von Hippel-Lindau Disease In this condition, tumors and cysts form in different areas of the body.
- Neurofibromatosis 1 (NF1) This disorder results in changes in skin coloring and tumor growth along nerves in the skin, brain, and other parts of the body. (3,14)
What Is Hereditary Paraganglioma-Pheochromocytoma?
When the genetic changes (mutations) that cause paragangliomas and pheochromocytomas are passed on from parents to children, the condition is known as hereditary paraganglioma-pheochromocytoma. (15)
Researchers suspect that about half of pheochromocytomas are hereditary. (16)
The mutations involved with hereditary paraganglioma-pheochromocytoma may affect one of the following genes:
- MAX (15)
Men and women with hereditary paraganglioma-pheochromocytoma have a fifty-fifty chance of passing the gene mutation to their offspring. (15)
Hereditary Paraganglioma-Pheochromocytoma Risks
People born with hereditary paraganglioma-pheochromocytoma face an increased risk of developing tumors as they age.
By age 30, between 20 and 50 percent of those with the syndrome develop at least one tumor. By age 50, that number goes up to 86 percent.
This inherited syndrome also increases the risk of developing other types of tumors, such as:
- Gastrointestinal stromal tumors (GIST) in the digestive tract
- Renal cell carcinoma in the kidney
- Papillary thyroid carcinoma in the thyroid gland (15)
Diagnosing Hereditary Paraganglioma-Pheochromocytoma
In order to make a diagnosis of hereditary paraganglioma-pheochromocytoma, doctors will ask a patient about symptoms and family history.
The next step might be DNA testing of a blood sample to look for a telltale gene mutation.
A genetic counselor can discuss the pros and cons of genetic testing and help put any findings in context. (14)
Screening for Hereditary Paraganglioma-Pheochromocytoma
For patients with this inherited syndrome, doctors will likely recommend regular screenings to spot any tumors that might develop as early as possible.
But because this condition is rare, there’s no consensus about how often to screen.
Many experts recommend screening children beginning at age 10, or at least 10 years before the earliest age any family members developed tumors.
Doctors at St. Jude’s Children’s Research Hospital recommend the following protocol:
- Annual Physical Exams These should be performed by a doctor who is familiar with the condition.
- Annual Blood Tests High levels of certain hormones in the blood can be a red flag.
- Magnetic Resonance Imaging (MRI) These scans should be performed every one to two years to check for tumors. (15)
Symptoms of Hereditary Paraganglioma-Pheochromocytoma
Symptoms of hereditary paraganglioma-pheochromocytoma may include:
- High blood pressure
- Fast or irregular heartbeat
- Pale skin
- Hearing loss
- Trouble swallowing
- Hoarseness (15)
Inheritance Patterns of Hereditary Paraganglioma-Pheochromocytoma
The inheritance pattern of paraganglioma-pheochromocytoma syndrome is known as autosomal dominant. That means people who inherit an abnormal gene from one parent (not necessarily both) are at increased risk. (17)
But developing hereditary paraganglioma-pheochromocytoma also requires a second mutation, one affecting the normal copy of the gene. This second, so-called somatic mutation develops during a person’s life and only appears in tumor cells. (13)
Some types of hereditary paraganglioma-pheochromocytoma are passed on only if the mutated copy of the gene is inherited from the father, while other types can be inherited from either the father or mother. (13,15)
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