Pheochromocytoma

The development of pheochromocytoma cannot always be traced back to one clear cause. The disease is based on changes in hormone producing chromaffin cells of the adrenal medulla. This leads to increased catecholamine production. Pheochromocytoma is strongly linked to inherited genetic changes. This is why genetic classification plays an important role in diagnosis and follow up care.

Known risk situations include:

• Hereditary tumor syndromes and genetic predisposition
• Multiple endocrine neoplasia type 2
• Von Hippel Lindau syndrome
• Neurofibromatosis type 1
• Family history
• Young age at diagnosis, tumors on both sides or multiple tumors

The link between pheochromocytoma and hereditary syndromes is especially well documented. In these conditions, genetic changes are already present. They can increase the risk of tumor development. Today, genetic testing is usually offered as an option for every person with pheochromocytoma.

Even though genetic risk situations are well described, the cause often remains unclear. This makes it important to detect possible genetic causes early. They can affect further treatment and the assessment of possible family risk.

Pheochromocytoma symptoms mainly occur because the body produces too much adrenaline and noradrenaline. These hormones affect the heart, blood vessels, metabolism and nervous system. Symptoms often occur in attacks. In some cases, individual symptoms can also last longer. A typical feature is that attacks often involve a strong rise in blood pressure, palpitations and inner restlessness. For this reason, the symptoms are often first linked to stress, panic attacks or cardiovascular problems.

The most common symptoms of pheochromocytoma include:

• High blood pressure, either persistent or attack like
• Tachycardia and palpitations
• Headaches
• Sweating
• Inner restlessness and nervousness

Less common symptoms may also occur, such as:

• Trembling
• Paleness
• Weight loss
• Nausea

Typical warning signs of pheochromocytoma are repeated attacks of high blood pressure, palpitations, headaches and heavy sweating. Very high rises in blood pressure, up to a hypertensive crisis, should always be checked by a doctor. This is especially important when they occur together with other autonomic symptoms.

Pheochromocytoma diagnosis usually involves several steps. It often starts with a blood test and urinalysis. These tests check whether the tumor produces increased catecholamines or their breakdown products. Measuring free metanephrines in the blood or fractionated metanephrines in a 24 hour urine sample is especially important. Metanephrines are inactive breakdown products of adrenaline and noradrenaline. They are well suited for diagnosis because they are produced more steadily than catecholamines.

If blood and urine tests are abnormal, imaging follows. This helps locate the tumor more precisely. Computed tomography of the abdomen is often used. It can show changes in the adrenal glands well. Magnetic resonance imaging may also be useful in some cases. This applies, for example, if the tumor is suspected outside the adrenal gland. If findings remain unclear or there are signs of more extensive disease, special nuclear medicine or functional imaging methods may also be used.

Because pheochromocytomas can occur in hereditary tumor syndromes, genetic testing may also be part of diagnosis. Typical situations include young age at diagnosis, tumors on both sides or a known family history.

The aim of pheochromocytoma treatment is to control excess hormone release. Treatment also aims to prevent cardiovascular complications and, where possible, remove the tumor completely. Surgical removal of the tumor is often the main curative treatment option. Careful planning is needed before surgery. Manipulating the tumor can trigger blood pressure crises. Therefore, medication such as alpha blockers is usually given before surgery. This helps reduce the effect of catecholamines on the blood vessels.

Today, surgery is often minimally invasive. This depends on tumor size, tumor location and the oncological situation. In genetically caused tumors on both sides, cortex sparing adrenalectomy may be considered. In this procedure, doctors try to preserve the adrenal cortex. This can help avoid lifelong replacement of adrenal cortex hormones. If the pheochromocytoma is locally invasive or metastatic, surgery remains an important part of treatment. However, it is usually no longer used with a curative aim.

If the pheochromocytoma cannot be removed completely or metastases are already present, additional treatments may be used. These may include systemic and palliative therapies. Depending on the situation, nuclear medicine treatments, targeted therapies and medication may be considered. These treatments aim to reduce hormone production or slow tumor growth. Metyrosine may also be used in selected cases. It inhibits catecholamine synthesis.

Alongside conventional medical treatment, symptom focused measures can be useful in pheochromocytoma. Stress reduction is especially important. Physical and emotional stress can increase catecholamine release, blood pressure spikes or palpitations. Avoiding certain tyramine rich foods is also sometimes recommended. This may help reduce symptom triggers and possible effects on biochemical testing. Tyramine rich foods include red wine, sauerkraut, salami and soy sauce.

For complementary therapies such as acupuncture, TCM, phytotherapy or hyperthermia, there is currently no tumor specific clinical evidence for pheochromocytoma. However, data from supportive oncology suggest that integrative approaches may help reduce treatment related burden, fatigue or sleep disorders.

In our practice, we therefore use targeted supportive elements. One element is acupuncture. There are initial indications that it may have a blood pressure lowering effect. Another element is oncological hyperthermia as a supportive measure. With controlled warming, we aim to promote tissue blood flow and gently support immune activity. This is intended to support our patients during conventional medical treatment in a holistic way.

For this reason, stress reduction, trigger avoidance and good supportive care are especially important in pheochromocytoma. Standard treatment remains decisive.

The prognosis of pheochromocytoma is generally good when the tumor is detected early, fully removed and followed up. In most localized tumors, long term remission is possible, and life expectancy can be very good. The situation is more difficult in hereditary, bilateral, extra adrenal or metastatic cases. These cases require close long term follow up. Genetic factors are especially important for prognosis because they can affect the risk of recurrence and the risk of additional tumors.

The information listed contains relevant topics and serves to improve understanding.