What are pheochromocytomas and paragangliomas?
Pheochromocytomas and paragangliomas are rare hormone-producing tumors that arise from chromaffin cells in the autonomic nervous system. These tumors can produce large amounts of stress hormones, primarily adrenaline and noradrenaline, which can cause severe and sometimes life-threatening symptoms.
Pheochromocytomas are located in the medulla of the adrenal glands, while paragangliomas arise outside the adrenal glands, most often along the sympathetic nervous system in the abdomen, chest or neck. Despite the difference in location, the conditions have much in common and are often treated together in healthcare.
Cause and risk factors
Pheochromocytomas and paragangliomas usually occur sporadically, but a relatively large proportion have a genetic background. The tumors can occur at any age but are most often diagnosed in adulthood.
- Heredity: Mutations in genes such as SDHx, MEN2, VHL or NF1 increase the risk.
- Family history: Relatives with pheochromocytoma or paraganglioma.
- Previous tumor disease: People with known neuroendocrine tumors.
- No clear risk factor: Many people develop the disease without a known underlying cause.
Common symptoms of pheochromocytoma and paraganglioma
The symptoms are caused by overproduction of stress hormones and can come in attacks or be more persistent. They are often misinterpreted as stress, anxiety or cardiovascular disease.
- Sudden increases in blood pressure or difficult-to-treat hypertension.
- Palpitation and rapid pulse.
- Sweating and feeling hot.
- Headache, often intense and throbbing.
- Anxiety, worry or panic without a clear cause.
- Trembling, paleness and nausea.
- Fatigue after attacks.
How do the symptoms feel?
The symptoms often come in attacks that can last from minutes to hours. During an attack, you may experience strong heart palpitations, pressure on the chest, intense headache and pronounced sweating. Between attacks, the symptoms may be mild or completely absent.
How is a diagnosis made?
Investigation of suspected pheochromocytoma or paraganglioma aims to detect hormone overproduction, localize the tumor and determine whether the disease has spread. The diagnosis is based on a combination of blood tests, imaging studies and sometimes genetic testing.
- Blood tests: The most important laboratory test is the analysis of methoxycatecholamines, which reflect the body's production of adrenaline and noradrenaline. Elevated levels of Methoxycatecholamines, fP strongly suggest pheochromocytoma or paraganglioma.
- Imaging (CT or MRI): Computed tomography or magnetic resonance imaging is used to locate the tumor in the adrenal glands or along the nervous system and assess any spread.
- Functional imaging: In some cases, special examinations, such as PET or MIBG scintigraphy, are used to identify hormone-producing tumor tissue.
- Genetic testing: When the diagnosis is confirmed, genetic testing is often recommended, especially in younger patients or if there is a family history.
Prognosis and treatment
The prognosis for pheochromocytoma and paraganglioma is often good if the tumor is detected in time and can be operated on. Treatment primarily consists of surgical removal of the tumor, after careful medical preparation to control blood pressure and heart rate. Some paragangliomas can be malignant and require long-term follow-up. Regular check-ups with blood tests and imaging are therefore important even after treatment.