Phaeochromocytoma

A phaeochromocytoma is a rare tumour of the adrenal glands, which sit above the kidneys.

They are usually non-cancerous (benign), although around one in 10 are cancerous.

Phaeochromocytomas can develop at any age, including in babies and children.

How the adrenal glands are affected

The adrenal glands produce a range of hormones that are vital for the normal working of the body.

Most phaeochromocytomas develop at the centre of one or both of the adrenal glands, in a part called the adrenal medulla.

The cells of the adrenal medulla make the 'fight or flight' hormones adrenaline and noradrenaline, and release these into the bloodstream when they are needed. These hormones control heart rate, metabolism and blood pressure.

Phaeochromocytomas can cause the adrenal medulla to produce too much of these hormones, which often results in problems such as heart palpitations and high blood pressure.

Signs and symptoms

The symptoms of a phaeochromocytoma tend to be unpredictable – often occurring in sudden attacks lasting from a few minutes to an hour.

These attacks may become more frequent, longer and more severe as the tumour grows.

Although not everyone has them, the three typical symptoms are:

severe headaches
sweating
heart palpitations

Other possible symptoms include:

feeling irritable, nervous or anxious
pale skin
weight loss
feeling tired and drowsy
uncontrollable shaking or trembling (tremors)
feeling sick
shortness of breath
a facial flushing sensation (although your skin may look grey during these attacks)
feeling dizzy or faint when your stand up (postural or orthostatic hypotension)
chest pain or abdominal (tummy) pain

However, some people with phaeochromocytoma never develop symptoms, and their condition is never diagnosed or is only discovered during tests for another problem.

Some people have symptoms for many years before phaeochromocytoma is diagnosed.

What causes phaeochromocytomas?

Most phaeochromocytomas occur for no obvious reason and without a family history of the condition – particularly those affecting adults.

However, around one in every three or four occurs as part of an inherited genetic disorder, such as:

These conditions cause many tumours or growths to develop around the body – for example, people with multiple endocrine neoplasia often have tumours in their thyroid gland and parathyroid glands (tiny glands near the thyroid that regulate calcium levels).

These conditions can be passed on to a child by their parents. They are passed on in what is known as an autosomal dominant pattern, which means only one parent needs to carry a gene responsible for one of these conditions to risk passing it on to their children.

There are also other rare genetic causes of phaeochromocytoma. If you are diagnosed with a phaeochromocytoma, your doctor may recommend having genetic screening for some of these conditions.

Read more about genetics and genetic testing.

Diagnosing a phaeochromocytoma

As the symptoms are unpredictable, it may be hard to capture the attacks when you see your GP. Try to describe what you experience in as much detail as you can. Keeping a diary of your symptoms may be helpful.

Your GP may want to rule out other possible causes of your symptoms such as medication or panic attacks. Phaeochromocytoma is rare compared to other causes of similar symptoms.

Your GP may arrange urine tests to measure your levels of normetadrenaline and metadrenaline (adrenaline and noradrenaline breakdown products), or may refer you to a specialist to organise blood or urine tests.

If your hormone levels are significantly higher than normal, you will be referred to a specialist doctor who may arrange a computerised tomography (CT) scan or magnetic resonance imaging (MRI) scan of your adrenal glands, or other tests.

If the scan shows a tumour on your adrenal glands, you'll probably be referred for surgery to have this removed. It’s important not to do this surgery immediately, however, as some medication is required for a period of a few weeks to prepare the body for this operation.

Treating a phaeochromocytoma

Most people with a phaeochromocytoma will have it surgically removed.

You'll usually be given medication called alpha blockers for several weeks before the operation to block the effects of the excess hormones on your body and stabilise your blood pressure and pulse ready for surgery.

You may also be given a medication called beta blockers if your doctor thinks it necessary.

The operation is carried out under general anaesthetic (where you are asleep) and may be done as:

laparoscopic ('keyhole') surgery – where a number of small incisions (cuts) are made and fine instruments are passed through these to remove the tumour; this is the most common type of surgery for phaeochromocytomas
open surgery – where a single, larger incision is made in the skin to access and remove the tumour

The incisions will usually be made in your abdomen.

Your doctor will discuss the best type of operation for you and explain the procedure to you in detail, including the risks, and will answer any questions you have.

If your phaeochromocytoma is cancerous, you may also need chemotherapy or radiotherapy in addition to surgery.

If your tumour cannot be removed, you will need medication to manage your condition – usually a combination of medicines to control the effects of the excessive hormones.

Outlook

Left untreated, phaeochromocytomas can cause severe problems and have a significant impact on your quality of life.

The effects on your heart and blood pressure could lead to complications, some of which are life-threatening, such as an irregular heartbeat (arrhythmia), heart attacks, strokes and organ failure.

However, the majority of tumours can be successfully removed during surgery and this will usually mean most of the symptoms disappear.

The tumour may eventually return in some people who have it removed, so you'll need to attend regular follow-up appointments after surgery. Contact your GP straight away if your symptoms return.