Phaeochromocytoma

A phaeochromocytoma is a rare tumour of the adrenal gland that makes stress hormones of its own accord. Rather than growing, what it mainly does is pour adrenaline and related substances into the blood, which is why it shows itself in attacks. Between them a person can feel perfectly well, and that is why the diagnosis often comes years after the first complaints. The tumour is nearly always benign and nearly always removable, but here the preparation for the operation matters more than the operation itself.

What this tumour does

The adrenal glands are two small organs that sit like caps on top of the kidneys. Normally their core releases adrenaline and noradrenaline in response to danger: the heart speeds up, the vessels narrow, blood pressure rises. The reaction is short, a matter of minutes.

A phaeochromocytoma is made of those same cells, but it answers to itself rather than to the nervous system, and it releases hormones for no reason at all — sometimes in bursts, sometimes almost continuously. The body then lives in a state of alarm it does not need: vessels constricted, heart working flat out, blood pressure staying high.

The same cells are scattered along the spine and around the large vessels. A tumour arising from them is called a paraganglioma; it behaves in much the same way, but it has to be looked for outside the adrenal gland, in the chest, the abdomen or the neck. Around one tumour in ten spreads to other organs.

How it shows itself

The most recognisable feature is the attack. It begins suddenly, lasts from a few minutes to an hour and sometimes longer, and is built from three signs: a severe throbbing headache, drenching sweat and a pounding heart. Usually there is also:

• a sharp rise in blood pressure;
• a pale face — pallor rather than flushing;
• trembling hands and a sense of inner vibration;
• nausea, abdominal or chest pain;
• intense anxiety, a feeling that something terrible is about to happen;
• exhaustion afterwards, sometimes passing a lot of urine.

Attacks may come several times a day or once a month, and as the tumour grows they usually become more frequent. Between them blood pressure may be persistently high or entirely normal.

Some signs attract no attention on their own but explain a great deal together: weight loss with a normal appetite, a newly high blood sugar, stubborn constipation, poor tolerance of heat. Dizziness on standing deserves a separate mention: despite a high pressure lying down, it often drops sharply on getting up, because the vessels have been constricted for a long time and the circulating blood volume is reduced. High blood pressure combined with vision greying out on standing is a strong reason to look for this tumour.

What sets off an attack

An attack can come out of nowhere, but there are also well-recognised triggers. They are worth knowing so you can describe them to a doctor and avoid provoking one needlessly:

• physical effort, straining, bending, pressure on the abdomen — including during a medical examination;
• anaesthesia and any operation;
• certain medicines: a beta blocker given without prior cover, anti-sickness drugs of the metoclopramide group, tricyclic antidepressants, decongestant nose sprays, high doses of steroids;
• abruptly stopping blood pressure medicines that act through central mechanisms;
• stimulants, including cocaine and amphetamines.

Hence one rule: if a phaeochromocytoma is confirmed or seriously suspected, every doctor who prescribes for you or prepares you for a procedure, dental work included, needs to know about it.

When help is needed urgently

Sometimes the surge of hormones becomes life threatening. Call an ambulance if, alongside a sharp rise in blood pressure, there is:

• an unbearable headache unlike any before;
• pain or tightness in the chest;
• severe breathlessness, an inability to lie flat, bubbling breathing;
• weakness or numbness in an arm or leg, a drooping face, difficulty speaking;
• confusion, seizures, loss of consciousness;
• a very fast or irregular heartbeat that will not settle.

A phaeochromocytoma crisis can cause a heart attack, a brain haemorrhage or fluid on the lungs, so none of this is over-cautious. Across much of Europe the single emergency number is 112; elsewhere use your local emergency number. Always tell the crew about the diagnosis or the suspicion, because it changes which drugs can be used.

What else it could be

Panic attacks produce almost the same picture — palpitations, trembling, a fear of dying — and a great many people with a phaeochromocytoma are first told they have an anxiety disorder. There are differences: in a panic attack the face tends to flush rather than turn pale, blood pressure rises only moderately, the episode is tied to circumstances and it responds to psychological treatment.

An overactive thyroid, menopausal flushes, migraine, bouts of fast heartbeat from an arrhythmia, low blood sugar in people using insulin, the effects of stimulants and overuse of decongestant nose sprays can all look similar. A separate group is the other causes of persistently high blood pressure: narrowing of a kidney artery, excess aldosterone, sleep apnoea. All of these are far commoner than a phaeochromocytoma, and investigation starts with them.

What raises suspicion is not the individual symptoms but the combination: that they come in attacks, the pallor, blood pressure that resists three drugs, a fall in pressure on standing, an onset at a young age, an adrenal lump found by chance.

Where it comes from

Many phaeochromocytomas arise on their own and are connected to nothing. But around one in three is part of an inherited syndrome. The commonest are von Hippel-Lindau syndrome, neurofibromatosis type 1, multiple endocrine neoplasia type 2 and mutations in the succinate dehydrogenase genes, which are linked to familial paragangliomas.

Genetic testing is therefore now offered to almost everyone found to have such a tumour, not only to those with a family history: an inherited form is often the first in the family. The strongest grounds are a young age at onset, tumours in both adrenal glands, a site outside the adrenal gland and other tumours among relatives. The result also determines whether relatives are tested: in mutation carriers the tumour is looked for in advance.

How it is found

The diagnosis is made by a test rather than by a scan. What is measured are metanephrines, the breakdown products of adrenaline and noradrenaline, in blood or in urine collected over twenty-four hours. They stay raised between attacks as well, so the test is informative even when someone feels well. Blood is taken after twenty minutes lying quietly: sitting down and giving the sample straight away pushes the result up falsely.

Quite a few medicines and foods affect the result: tricyclic antidepressants, some blood pressure drugs, decongestant nose sprays, coffee, strong tea and heavy exercise the day before. Your doctor will say in advance what to stop and for how long; stopping a prescribed medicine on your own is not acceptable, least of all blood pressure treatment.

Only once the test has confirmed an excess of hormones is the tumour itself hunted for, with a CT or MRI scan of the abdomen. If nothing shows there, or if there are several sites, tests using a radioactive marker are added, which can see this tissue anywhere in the body. A biopsy is not performed when a phaeochromocytoma is suspected: putting a needle into it can set off a severe crisis. Conversely, an adrenal lump found by chance is not in itself a diagnosis — such findings are usually harmless adenomas, though the hormones are checked all the same.

How it is treated

The tumour is removed, and in most cases blood pressure then normalises and the attacks stop. But preparation before the operation is compulsory, and the outcome depends on it.

Two or three weeks beforehand, alpha blockers are started. They relax vessels that have been constricted for years and take away the ground for a crisis under anaesthetic. At the same time you are advised to drink more and not to restrict salt: the circulation has to refill, or blood pressure will collapse once the tumour is out. If the pulse stays fast on this treatment, a beta blocker is added — only once alpha blockade is already working, and never before. A beta blocker given first leaves the vessels constricted with nothing to counter them and can trigger a devastating crisis.

The operation is usually laparoscopic, through a few small cuts in the abdominal wall; for a large tumour an open approach is used. The anaesthetic is run by a team ready for surges in pressure at the moment the surgeon handles the tumour. In the first hours after removal the opposite happens: blood pressure can fall sharply and blood sugar can drop, so both are monitored.

If the tumour cannot be removed or has spread, blood pressure is held with medicines and treatment with a radioactive agent, chemotherapy or targeted drugs is added. A situation of its own is removal of both adrenal glands: hormone tablets are then needed for life, they must not be missed and certainly not stopped, and during illness, fever or injury the dose is temporarily increased to a plan agreed beforehand with a doctor.

What happens afterwards

After surgery, regular metanephrine checks are needed: the first after a few weeks, then yearly for at least ten years, and lifelong in inherited forms and in tumours sited outside the adrenal gland. Recurrence is uncommon but can happen even many years later, and the test picks it up before symptoms do.

Blood pressure sometimes stays high after the operation, because over the years of illness ordinary hypertension has set in. That does not mean tumour has been left behind, but it does need treating in the usual way. And if an inherited form is confirmed, it is worth discussing testing calmly with relatives: this is one of those situations where finding it early spares someone years of attacks.

Online consultation

An online appointment is most useful at two stages. The first is when the attacks are happening and nobody has found a cause: a doctor can go through what your episodes actually look like, set them against your blood pressure diary, review the medicines you take and explain which tests are worth doing and how to do them without getting a false result. The second is once the diagnosis is made: this is where the plan for preparing for surgery is gone through, the order of alpha and beta blockers, the fluid and salt advice, and after discharge the follow-up schedule and what other doctors and the anaesthetist need to be told. During an acute attack, by contrast, there is nothing to discuss — an ambulance is what is needed.

This material is for information only and does not replace medical advice.