Paraganglioma

A paraganglioma is a type of growth, or tumor, that develops from specialized nerve cells throughout the body. These growths can appear in various locations, including the head, neck, abdomen, or pelvis.

Paragangliomas are uncommon. Most of these growths are not cancerous; this means they are benign and don't spread. However, some paragangliomas are cancerous, meaning they can potentially spread to other parts of the body.

The exact cause of most paragangliomas isn't known. In some cases, the condition is linked to inherited genetic changes passed down from parents to their children.

Paragangliomas can develop at any age, but they're often discovered in adults between 20 and 50 years old.

Treatment for paragangliomas usually involves surgery to remove the tumor. If the tumor is cancerous and has spread, additional treatments, such as chemotherapy or radiation therapy, might be necessary to control or eliminate the cancer.

Paragangliomas are tumors that can grow in various parts of the body, most often in the head, neck, abdomen, or pelvis. The symptoms you experience depend on where the tumor is located.

Symptoms related to head and neck tumors:

If the tumor is in your head or neck, you might notice unusual sounds, like a pulsing or whooshing noise in your ears (pulsatile tinnitus). Other potential symptoms include:

• Difficulty swallowing
• A raspy or hoarse voice
• Hearing loss
• Blurred vision
• Dizziness

These symptoms often develop gradually as the tumor grows larger and puts pressure on nearby nerves and tissues.

Symptoms related to tumors in other parts of the body:

Tumors in other parts of the body sometimes produce hormones called catecholamines. These hormones are part of the body's stress response system, and include adrenaline (the "fight-or-flight" hormone). When a paraganglioma makes too much of these hormones, the symptoms can include:

• High blood pressure
• A fast, fluttering, or pounding heartbeat
• Sudden flushing or paleness in your face
• Excessive sweating
• Headaches
• Tremors (shaking) in your hands or arms
• General weakness

These symptoms can come and go, and some people with paragangliomas have no symptoms at all. They may only discover they have the tumor when it's found incidentally during medical tests for other reasons.

When to see a doctor:

If you're concerned about any of these symptoms, make an appointment with your doctor. It's particularly important to seek medical attention if you're experiencing multiple symptoms at once. If you have high blood pressure that's difficult to control, or if your blood pressure frequently spikes, talk to your doctor about your paraganglioma risk. High blood pressure that requires multiple medications to manage is a significant factor to discuss. Similarly, if you experience a sudden, unexpected increase in blood pressure, discuss this with your doctor.

If you're worried you might have paraganglioma, schedule a visit with your doctor or another healthcare provider. It's especially important to see a doctor if you're experiencing several symptoms of paraganglioma at once.

If you have high blood pressure that's difficult to manage, discuss your risk of paraganglioma with your healthcare provider. This includes situations where you need more than one medication to control your blood pressure. Also, bring up any instances where your blood pressure suddenly rises, whether you've noticed it yourself or your doctor has. Talking to your healthcare professional about these issues is a good way to address potential problems early.

Paragangliomas are growths that form from special nerve cells called chromaffin cells. These cells play important roles in the body, like helping control blood pressure. Usually, these cells follow instructions from their DNA, which is like a set of instructions for the cell. Healthy DNA tells cells when to grow, when to stop growing, and when to die.

Sometimes, the DNA in chromaffin cells gets altered. This altered DNA gives different instructions. Instead of following the usual growth and death signals, these altered cells keep growing and dividing rapidly, leading to a mass of cells, or a tumor.

The cause of these DNA changes isn't always clear. Sometimes, these changes are passed down through families. Other times, the changes happen randomly, and the reason isn't known.

Most paragangliomas stay in one place and don't spread to other parts of the body. However, sometimes cells from the tumor break off and travel to other areas. This spread is called metastatic paraganglioma. When this happens, the spread most often goes to nearby lymph nodes, but it can also affect the lungs, liver, and bones.

Paragangliomas are closely related to another type of tumor called a pheochromocytoma. Pheochromocytomas are tumors that start in the chromaffin cells located in the adrenal glands, which are small glands sitting above each kidney.

A family history of paraganglioma can increase your risk. Sometimes, these tumors are linked to specific gene changes that are passed down through families. If your family has a history of paraganglioma, it could mean that certain gene changes are common in your family lineage.

Several other inherited conditions can also increase the risk of paraganglioma. These conditions are caused by specific gene changes that are passed down from parents to children:

• Multiple Endocrine Neoplasia Type 2 (MEN 2): This condition, also known as MEN 2, can lead to tumors in hormone-producing glands, such as the thyroid and parathyroid glands. There are two main types, MEN 2A and MEN 2B. Both increase the risk of paragangliomas. Imagine your body's hormone-making factories; MEN 2 can cause extra factories to pop up, and these extra factories can sometimes be cancerous.

• Von Hippel-Lindau (VHL) disease: VHL disease can cause tumors and fluid-filled sacs (cysts) in various parts of the body, including the brain, spinal cord, and kidneys. This means that different parts of your body might develop abnormal growths.

• Neurofibromatosis Type 1: This condition causes tumors called neurofibromas to develop in the skin. It can also cause tumors on the optic nerve, which carries signals from your eye to your brain. Think of the optic nerve as a telephone wire; neurofibromatosis can cause tumors to form along this wire.

• Hereditary Paraganglioma Syndromes: These syndromes directly cause both pheochromocytomas (another type of tumor) and paragangliomas. People with these syndromes often have more than one of these types of tumors. This suggests a strong genetic link for these tumors in the family.

• Carney-Stratakis Syndrome: This condition is associated with tumors in the digestive system and also with paragangliomas. This means there's a combination of tumor types that might be connected to a specific gene change in the family.

Understanding your family history and these inherited conditions can help your doctor assess your risk of developing a paraganglioma.

Diagnosing a paraganglioma often begins with simple blood and urine tests. These tests look for signs that the tumor might be producing too much of certain hormones. For example, they can check for elevated levels of hormones called catecholamines, which are sometimes produced in excess by paragangliomas. They can also check for a protein called chromogranin A, which can be a marker for these tumors.

Blood and urine tests help measure the amounts of different hormones in your body. If the results show unusual hormone levels or other related markers, it might suggest the presence of a paraganglioma.

If your symptoms, family history, or the results of blood and urine tests raise concerns about a paraganglioma, your doctor might recommend imaging tests. These tests create pictures of the inside of your body to pinpoint the tumor's location and size. This information is crucial for developing a treatment plan.

Several imaging techniques are used to visualize paragangliomas:

• Magnetic Resonance Imaging (MRI): MRI uses powerful magnets and radio waves to create detailed images of soft tissues, like those found in the body.

• Computed Tomography (CT) Scan: A CT scan uses X-rays to create cross-sectional images of the body. It can show the tumor's location and size, and how it might be affecting surrounding structures.

• Metaiodobenzylguanidine (MIBG) Scan: This scan uses a radioactive substance that's absorbed by paragangliomas. The scan helps pinpoint the location of the tumor.

• Positron Emission Tomography (PET) Scan: A PET scan also uses a radioactive substance, which is taken up by the tumor. The scan shows the activity of the tumor, which can help doctors understand its characteristics and spread.

Sometimes, certain genetic changes inherited from your parents can increase your risk of developing a paraganglioma. If you have a paraganglioma, your doctor might suggest genetic testing to check for these changes. Knowing whether you carry these genes can help predict the likelihood of the tumor returning after treatment.

Crucially, if you have a paraganglioma, your doctor might suggest your family members also get tested for these genetic changes, as they too could be at increased risk. A genetic counselor can explain the risks and benefits of genetic testing, and help you and your family make informed decisions about whether to get tested. They can also provide support and resources for managing the implications of such test results.

Treating Paragangliomas: A Guide for Patients

Paragangliomas are tumors that can develop in various parts of the body. Treatment usually starts with surgery to remove the tumor. However, if the tumor produces hormones, doctors might first use medications to control those hormones. If surgery isn't possible or the tumor has spread, other treatments are needed.

The best treatment for a paraganglioma depends on several factors:

• Tumor location: Where the tumor is located in the body.
• Cancer spread: Whether the tumor is cancerous and has spread to other parts of the body.
• Hormone production: Whether the tumor is producing extra hormones that cause symptoms.

Different types of treatment are available.

Controlling Hormone Effects:

If the paraganglioma produces excess catecholamines (hormones that affect blood pressure and other functions), medications are crucial to control these effects and lower hormone levels. These medications help manage high blood pressure and other symptoms. It's vital that these symptoms are under control before starting other treatments. If you have a paraganglioma that produces excess catecholamines, uncontrolled levels during treatment could cause serious problems.

• Medications: Some blood pressure medications, such as alpha blockers, beta blockers, and calcium channel blockers, are often used to control hormone effects.
• Dietary Changes: A diet high in sodium and plenty of fluids are sometimes recommended to help with symptom management.

Surgery:

Surgical removal of the paraganglioma is a common treatment. Even if complete removal isn't possible, doctors may try to remove as much of the tumor as possible. The type of surgery and the surgeon needed depends on the tumor's location:

• Head and Neck Tumors: Head and neck surgeons.
• Brain, Spine, and Nerve Tumors: Neurosurgeons.
• Hormone Gland Tumors: Endocrine surgeons.
• Blood Vessel Tumors: Vascular surgeons.
• Team Approach: Often, surgeons from different specialties work together for complex cases.

Other Treatments:

• Radiation Therapy: This uses high-energy beams (like X-rays or protons) to target and destroy tumor cells. It's an option if surgery isn't completely successful or if the tumor has spread. A specific type called stereotactic radiosurgery is often used for tumors in the head and neck. This method focuses many beams of low-powered radiation on the tumor, delivering a high dose to kill tumor cells.
• Ablation Therapy: This uses heat or cold to destroy tumor cells. It might be used if the tumor has spread to other parts of the body. Radiofrequency ablation uses heat, while cryoablation uses extreme cold.
• Chemotherapy: Strong medications are used to shrink tumors, especially if they have spread. If the tumor produces extra hormones, medications to control those hormones are given before chemotherapy.
• Targeted Therapy: These medications target specific parts of tumor cells, causing them to die. It's used when surgery isn't an option or if the tumor has spread.
• Peptide Receptor Radionuclide Therapy (PRRT): This treatment uses a special medicine that delivers radiation directly to the tumor cells. The medicine combines a part that finds the tumor cells and a part that delivers radiation. It's a good option if surgery is not possible or the tumor has spread. One common medicine in this category is lutetium Lu 177 dotatate (Lutathera).
• Clinical Trials: These studies test new treatments or ways to use existing treatments. Talk to your doctor if you're interested in participating in a clinical trial.
• Watchful Waiting: Sometimes, doctors decide to closely monitor the tumor with regular checkups rather than starting treatment right away. This is done if the tumor grows slowly and isn't causing any problems.

Important Note: This information is for general knowledge and does not constitute medical advice. Always consult with your healthcare professional for personalized treatment recommendations.