So, you're one of the rare few diagnosed with pheochromocytoma – an adrenal tumor that occurs in approximately 2 to 8 out of every million people. You may be asking yourself, "What now?" Being told you have a tumor is understandably overwhelming. However, there's good news: the majority of pheochromocytomas are benign, and around 90% can be successfully treated with surgery.
Knowing this can be a relief, but what are the next steps? From preparing for surgery to managing your symptoms in the meantime, this article will walk you through the steps for treatment, giving you a clear understanding of what to expect and how to approach your care. With the right medical guidance, patients with pheochromocytoma can look forward to full recovery and symptom resolution.
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Understanding Pheochromocytoma
Pheochromocytoma is a rare type of tumor that typically forms in the middle portion of the adrenal glands, located on top of the kidneys. These tumors arise from chromaffin cells, which are specialized cells that produce catecholamines, including adrenaline (epinephrine) and noradrenaline (norepinephrine).
Adrenaline and noradrenaline help the body respond to stress by facilitating its "fight-or-flight" response, influencing blood pressure, heart rate, and other physiological functions for survival. When a pheochromocytoma develops, it leads to the overproduction of these hormones, which can cause a range of symptoms and complications if left untreated.
Pheochromocytomas can affect individuals of any age, but they are most commonly diagnosed between the ages of 30 and 50. Approximately 25-35% of pheochromocytomas are linked to hereditary syndromes. Mutations in genes such as RET (associated with multiple endocrine neoplasia type 2), VHL (linked to von Hippel-Lindau syndrome), SDH (succinate dehydrogenase), and NF1 (associated with neurofibromatosis type 1) significantly increase the risk. Individuals with a family history of these syndromes are more likely to develop pheochromocytomas. (21)
The overproduction of catecholamines in pheochromocytoma causes a variety of symptoms, many of which are episodic and may be mistaken for other conditions. Common symptoms include:
- Sustained or episodic high blood pressure (hypertension)
- Heart palpitations
- Headaches
- Excessive sweating
- Pale skin
- Tremors
- Stomach pain
- Panic attacks
- Weight loss
- High blood sugar (hyperglycemia)
Diagnostic Process
Diagnosing pheochromocytoma involves a stepwise approach to confirm the tumor's presence and localize its precise location within the body. Because pheochromocytoma causes episodic symptoms that can mimic other conditions, it is easy to misdiagnose this condition.
Step 1: Clinical Evaluation
Physicians will take a comprehensive medical history, noting signs and symptoms indicative of excessive catecholamine secretion. They will also collect information about family history, specifically focusing on hereditary syndromes that increase an individual's risk of pheochromocytoma.
Step 2: Biochemical Testing
Once pheochromocytoma is suspected based on symptoms and/or family history, biochemical testing is the next step. Catecholamines are broken down into metanephrines, which can be measured in blood and urine.
Initial testing for pheochromocytoma should include one of these tests:
- Plasma-fractionated metanephrines
- 24-hour urine fractionated metanephrines and catecholamines
Elevated metanephrines are a sign of pheochromocytoma and help differentiate this condition from other conditions that can cause similar symptoms.
Step 3: Imaging Studies
If your blood or urine test is positive, your doctor will order imaging to locate the tumor. Computed tomography (CT) or magnetic resonance imaging (MRI) are the primary imaging modalities used to visualize adrenal tumors. (12)
For more complex cases, particularly in the rare scenario where the tumor has spread (metastasized) to other parts of the body, an MIBG or PET scan is used to localize tumors outside the adrenal glands (12).
Step 4: Genetic Testing
Given the strong association with hereditary syndromes, genetic testing is recommended for patients diagnosed with pheochromocytoma. Identifying specific gene mutations can guide treatment strategies and help screen family members at risk of developing the tumor.
Treatment Options
Pheochromocytoma treatment requires a comprehensive, multidisciplinary approach involving specialists across several fields to manage both the tumor and the effects of excessive hormone production. Given the complexity of the condition, a care team may include a variety of specialists, such as genetic counselors, endocrinologists, surgeons, cardiologists, oncologists, and primary care providers.
Surgery
The mainstay of treatment for pheochromocytoma is adrenalectomy (surgical removal of one or both adrenal glands).
- Unilateral Adrenalectomy (One Gland): In most cases, only one adrenal gland is affected by the tumor, making unilateral adrenalectomy the standard surgical procedure. This can often be performed laparoscopically, a minimally invasive technique with smaller incisions, faster recovery times, and fewer complications.
- Bilateral Adrenalectomy (Both Glands): In rare cases, both adrenal glands may be involved. In these instances, both glands may need to be removed. Bilateral adrenalectomy requires lifelong hormone replacement therapy since the body will no longer produce its own adrenal hormones.
During surgery, surrounding tissues and lymph nodes will be checked for signs of tumor metastasis. If the tumor has spread, these tissues will also be removed. (25)
After surgery, metanephrine levels will be rechecked. Normalization of metanephrines is a sign that the pheochromocytoma was completely removed. (25)
Preoperative Medications
To reduce the risk of dangerous cardiovascular complications during surgery, patients are placed on medications to block the effects of excess catecholamines. These medications are critical for stabilizing blood pressure, preventing arrhythmias, and managing other symptoms before surgery. (9)
Most commonly, two types of medications are prescribed to patients before surgery:
Alpha-blockers (e.g., phenoxybenzamine, prazosin, perazosin, and doxazosin) are the first-line pharmacological intervention for controlling high blood pressure. These drugs block the effects of adrenaline and noradrenaline on blood vessels, helping to keep blood vessels relaxed and dilated. They are usually started 7-14 days before surgery. (9, 10)
Beta-blockers (e.g., propranolol, atenolol, and metoprolol) are added after alpha-blockade to control heart rate and prevent arrhythmias. Importantly, beta-blockers are only introduced after blood pressure has been controlled with an alpha-blocker, as starting them first can worsen hypertension, causing a hypertensive crisis (blood pressure of 180/120 mmHg or higher). (9, 10)
Post-Diagnosis Guidance
In addition to pharmacological treatments before surgery, patients can implement dietary and lifestyle modifications to help alleviate the symptoms and prevent the complications associated with untreated pheochromocytoma.
Patients with pheochromocytoma are at risk of hypertensive crisis, which is a sudden and severe increase in blood pressure. A hypertensive crisis can lead to life-threatening complications, including heart attack, stroke, and organ damage (22). Monitoring blood pressure regularly is an important aspect of pheochromocytoma management. Patients with blood pressure readings of 180/120 mmHg or higher and symptoms like chest pain, shortness of breath, and confusion need to call 911 immediately.
Specific triggers often precipitate pheochromocytoma attacks. Therefore, trigger avoidance can help reduce symptom severity and frequency. Specifically:
- Diet: Certain foods can stimulate the release of catecholamines, triggering pheochromocytoma attacks. When possible, patients should avoid: red wine, chocolate, smoked meats, coffee, tea, bananas, citrus fruits, and vanilla. (29)
- Exercise: While physical activity is beneficial for cardiovascular health, patients with pheochromocytoma should avoid high-intensity exercise because strenuous exercise is a known trigger for catecholamine release.
- Stress Management: Physical and emotional stress triggers catecholamine release. Managing stress through relaxation techniques like meditation, deep breathing, or yoga can help reduce the risk of hormone surges.
The prognosis for patients diagnosed with pheochromocytoma is very good. Approximately 90% of pheochromocytomas are successfully removed with adrenalectomy. The recurrence rate after curative surgery is relatively low, at about 3% within 77 months post-surgery. The risk of recurrence is higher in patients with genetic forms of the disease, tumors located in the right adrenal gland, or tumors occurring outside of the adrenal glands (1).
Ongoing follow-up is essential to monitor for disease recurrence. The Endocrine Society suggests lifelong annual follow-up with biochemical testing (plasma and urinary metanephrines). Depending on the individual's risk factors, more frequent testing or occasional imaging may be recommended. (27)
Emotional and Psychological Support
Being diagnosed with pheochromocytoma and the uncertainty of living with a rare tumor can be scary. Research shows that patients with pheochromocytoma are more likely to experience anxiety and depression compared to the general population, likely due to both the physiological effects of excess catecholamines and the emotional strain of diagnosis and treatment.
It is important to recognize and address these feelings. Seeking support through online communities or support groups can be beneficial. Sharing stories, advice, and emotional support with others in similar situations can help reduce the sense of isolation that often accompanies a rare diagnosis. The Pheo Para Alliance provides online resources for educational materials and support networks.
Additionally, counseling or therapy with a mental health professional experienced in rare illness can be extremely beneficial. Cognitive-behavioral therapy (CBT) and other therapeutic interventions can help patients manage stress, cope with uncertainty, and develop strategies for improving mental health.
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Key Takeaways
- Diagnosing pheochromocytoma requires symptom detection, biochemical testing, and imaging studies to confirm the tumor's presence.
- Treatment primarily involves surgical intervention, often supported by preoperative medications to manage symptoms and stabilize blood pressure. Regular monitoring after surgery is essential to ensure long-term health and detect potential recurrence.
- It is important for patients to be proactive and informed as they navigate medical care and treatment after being diagnosed with pheochromocytoma.
- With the right support and a multidisciplinary medical care team, pheochromocytoma can be successfully treated. Engage with your healthcare team, ask questions, and seek out resources that provide support and guidance.
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