Acromegaly: symptoms, causes, diagnosis and treatment

The Pituitary Foundation says early symptoms can include tiredness and sleep disturbance, and that the condition may have been present for years before it is recognised. Changes build up slowly, you and your family may not notice them, and individual symptoms can be confused with other conditions. The NHS lists the following.

• Swollen hands and feet, such as a change in ring or shoe size.

• Growth of the feet, fingers, head, tongue and neck.

• A changing face: brow, nose, lips and lower jaw, with teeth becoming more spaced out.

• Headaches and joint pain.

• Sleep apnoea, sweating and difficulty sleeping.

• Thicker, oilier skin and a deeper voice.

• Numbness and weakness in the hands, which can reflect carpal tunnel syndrome.

• Irregular periods or erection problems.

• Vision changes, if the tumour presses on the optic nerve.

The pituitary gland sits at the base of the brain and controls many other hormone glands. In acromegaly it produces too much growth hormone. The Pituitary Foundation explains that growth hormone prompts the liver to make insulin-like growth factor 1 (IGF-1), which triggers tissue growth throughout the body.

The name comes from the Greek words for extremities and great. If excess growth hormone starts before the bones stop growing, which usually happens between 15 and 17, it can cause gigantism, with unusual height. Adult bones no longer lengthen, so adults develop acromegaly instead.

The Pituitary Foundation lists the aims as lowering excess growth hormone, relieving pressure from the tumour, preserving normal pituitary function and easing symptoms. The NHS says treatment usually stops excess hormone production and usually improves symptoms.

Surgery is one of the main options. The Pituitary Foundation describes trans-sphenoidal surgery through the nose or behind the upper lip, with an endoscope in some centres. The operation takes about an hour and a half and people usually stay in hospital for three to five days. Results are generally better when the tumour is small.

It also recommends being referred to an experienced pituitary surgeon who operates on 20 or more cases a year. Surgery does not cure everyone, and drugs or radiotherapy are then considered.

Radiotherapy may be needed if not all the tumour could be removed or surgery is not possible. The Pituitary Foundation says conventional treatment usually means 5 to 6 weeks of daily treatment, Monday to Friday, and that the full effect can take months or even years, so drugs often bridge the gap. Stereotactic radiotherapy can work faster, but it is not suitable for every tumour.

After treatment, the NHS says you continue to see a specialist to monitor how well your pituitary is working. Regular health checks cover type 2 diabetes, high blood pressure, heart disease and bowel polyps, including colonoscopy. Your care team also passes information to the National Congenital Anomaly and Rare Disease Registration Service, and you can opt out at any time.

Most cases come from a benign tumour of the pituitary, called an adenoma or a pituitary neuroendocrine tumour (PitNET). The Pituitary Foundation stresses that this is not the same as cancerous neuroendocrine tumours elsewhere in the body.

The NHS says acromegaly is not usually passed on from parents. The Pituitary Foundation adds that rare inherited cases exist. Rarely, the source of the hormone is outside the pituitary, which is why further scans are sometimes needed.

The NHS says a GP may ask to see photographs from the past couple of years to check changes, and will refer you to a specialist. The Pituitary Foundation advises taking photos to the appointment. An endocrinologist then arranges the tests.

Growth hormone varies through the day, so one blood result can mislead. The Pituitary Foundation says IGF-1 is measured, and an oral glucose tolerance test checks whether growth hormone falls after a glucose drink. In healthy people it falls. In acromegaly it stays high.

An MRI scan of the pituitary shows the size and position of the tumour. The Pituitary Foundation says it can be too small to see. Eye field tests check for pressure on the optic nerve, and other blood tests check whether other pituitary hormones are affected.

The Pituitary Foundation says that when left untreated, people with acromegaly are more likely to develop diabetes, high blood pressure and heart problems, and have a shorter life expectancy than the general population. It says these can improve to normal after successful treatment.

Once treatment works, soft tissue in the hands and feet usually shrinks and facial features gradually return towards normal. Sweating, headaches, snoring, vision disturbance and diabetes often improve, although some bone growth usually remains.

The NHS says to see a GP if you think you may have acromegaly, because early diagnosis and treatment can stop symptoms getting worse. It notes that acromegaly may take time to be diagnosed, and that if the GP thinks you have it they may ask to see photographs of you from the past couple of years to check any changes.

The Pituitary Foundation says the pituitary can cause vision changes if the tumour presses on the optic nerve, which is why eye field tests are part of the work-up. Any sudden change in vision or a new severe headache should be assessed urgently through NHS 111, an urgent GP appointment or A&E.

On the NHS, the GP refers you to a specialist for tests, which the NHS says include blood tests and an MRI scan of the brain, and treatment is then arranged by a specialist team. The Pituitary Foundation recommends being referred to an experienced pituitary surgeon who operates on 20 or more cases a year, so ask about the surgeon's experience wherever you are treated.

The NHS says that after treatment you continue to have appointments with a specialist to monitor how well your pituitary gland is working and check that your treatment is right for you. If you see a private endocrinologist, ask who will coordinate your ongoing monitoring, imaging and bowel checks.