My hands and feet started growing...

Julie Tierney only discovered she had acromegaly, a form of gigantism, when her shoes and rings no longer fitted. But a new drug offers hope, reports Kate Hilpern
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Indy Lifestyle Online

Most of us take for granted the fact that we stop growing, except perhaps outwards from the waist, after puberty. So imagine Julie Tierney's surprise when, in her late twenties, her shoe size increased from six to nine, she was unable to fit any rings on her fingers and her head became so big she couldn't get her crash helmet on.

"In addition to my actual bones appearing to have grown, I became really puffy, especially on my face where my cheekbones seemed to completely disappear," she says. "Eventually, I felt so embarrassed that I didn't want to go out. Fortunately my job wasn't customer-facing, which meant I could just about cope with work, but I couldn't face going out socially. I became really quite depressed and was going to bed at 8.30pm every night and crying a lot. It put a huge strain on my relationship with my boyfriend."

It didn't help that alongside the changes in her appearance, Julie started to experience some discomfort and pain, particularly in her joints, and followed by an acute spell of pancreatitis and the onset of diabetes. Although she didn't know it, her bones, cartilage, soft tissue and some of her organs were all growing, causing a range of health problems. "Up until then, tonsillitis was the worst thing I'd ever had," says Julie, now 37. "Then I seemed to feel unwell most of the time and had no enthusiasm."

During a visit to the diabetes clinic, a doctor noticed Julie's hands and realised what the problem was. Julie, it was soon confirmed, is one of an estimated 3,000 people in the UK suffering from acromegaly. The name comes from the Greek words for "extremities" and "enlargement" and reflects its most common symptoms: the abnormal growth of the hands and feet.

Gradually, bony changes can alter the patient's facial features, too - the brow and lower jaw protrude and the nasal bone enlarges. Other symptoms can include thick, coarse, oily skin; enlarged lips, nose and tongue; and a deepening of the voice due to enlarged sinuses and vocal cords. And, as Julie knows all too well, patients with acromegaly can also suffer from excessive sweating and skin odour, as well as fatigue and weakness.

"Acromegaly is a disorder that is caused when the pituitary gland produces excess growth hormone," explains Dr Peter Trainer, endocrinologist at the Christie Hospital in Manchester. The pituitary gland, at the base of the brain, produces several important hormones to control body functions such as growth and development, reproduction and metabolism. In 95 per cent of acromegaly cases, the overproduction of growth hormone is caused by a benign tumour of the pituitary gland, although nobody is sure what causes it.

"It's almost never inherited and there are no known risk factors for developing pituitary tumours, so you never really know who is at risk," Dr Trainer says. "Because of this, and its slow, often insidious onset - as well as the fact that it is a rare disease - acromegaly can remain undiscovered for many years. Most people have the symptoms for the best part of a decade before they are diagnosed."

Even then, acromegaly is often discovered by chance, he says. "My last two cases were diagnosed by their dentists, who had noticed spacing between the teeth as a result of the growing jaw."

This delay can be traumatic, he says, because for victims, the disfigurement has a profound effect on their psychological well-being. "Our studies show quality of life to be significantly impaired in all patients with acromegaly, and the heavy facial features are particularly distressing for women."

For children it's even worse, particularly because, if the condition sets in before puberty has finished, height can also increase - this is why it is called gigantism rather than acromegaly in these cases. Richard Kiel, who plays Jaws in the James Bond films and is more than seven feet tall, is an example. Dr Trainer says: "The reason most of us stop growing upwards after puberty is because of fusion of the long bones, but with gigantism these bones don't have a chance to fuse. So if it's not treated, you can potentially get a 27-year-old still growing upwards. With adults, on the other hand, the long bones have already fused so height is not affected."

While the emphasis on gigantism and acromegaly has mainly been on the effects of the distinct appearance of sufferers, the most serious consequences include diabetes mellitus, hypertension and increased risk of cardiovascular disease. Patients with acromegaly are also at increased risk for polyps of the colon that can develop into cancer. "Life expectancy is reduced by a decade, and this becomes much higher still if you have acromegaly in combination with diabetes or heart disease," Dr Trainer says.

Little wonder, then, that researchers have been working hard to develop a remedy, particularly as the traditional range of treatment options - surgical removal of the tumour, radiation therapy of the pituitary and drug therapy - are only successful with two-thirds of patients. This year, it looks as though they've cracked it with the licensing of Pegvisomant, the first new treatment for acromegaly for 15 years and one with a staggering 97 per cent success rate. It works, according to Dr Trainer, because - unlike previous treatments attempting to control the disease - this one doesn't try to inhibit growth hormone secretion. Instead, it blocks its action.

Julie describes the drug, which is injected daily, as the best thing that ever happened to her. "To say my life has turned around would be an understatement," she says. "Within two to three months, I'd lost the sweats, the irritability and the poor health and my looks started to go back to normal. Of course, where my bones had grown, they can't shrink again, but all the puffiness has gone and I've got all my enthusiasm and confidence back. I would never have my photo taken before, but I don't mind at all now. And whereas I could only cope with my job because it was mostly phone work, I've now got a second job at Tesco, where I love dealing with customers."

Elaine Coverley, 50, is similarly excited. "My first symptoms of acromegaly were finding it impossible to get my feet in a pair of shoes or to get any rings on my fingers, and I also seemed to get much fatter and my nose and jaw became bigger," she says. "It was so gradual that in the early years, I didn't think about it being a major problem, but when people hadn't seen me in a few years, they would remark on it. In the end, I didn't want to go out. I knew I didn't look nice."

Elaine also got carpal tunnel syndrome - with symptoms of tingling in the arm that kept her awake at night - as well as excruciating headaches and extreme fatigue. "Even after diagnosis, nothing seemed to help, but this drug has changed my life. I've just been to Australia, which I wouldn't have been able to contemplate before. The very fact that I can make plans is incredible for me, after what I've gone through."

Perhaps the most extraordinary thing about Pegvisomant is the way it was discovered. Dr John Kopchick, an internationally recognised leader in the growth hormone field, explains: "It was somewhat serendipitous because we were actually attempting to make a more potent growth hormone molecule. One of the ways we decided to test it out was to see if it increased the growth rate in mice. But, lo and behold, we came up with a smaller mouse rather than a bigger one. So we realised there might be opportunities here for treating acromegaly."

The only downside of the drug is the cost of manufacturing, admits Caroline Bullock of Pfizer, the pharmaceutical company that launched Pegvisomant in the UK. "But we are committed to making sure that everyone who needs it can access it, so we are bridging the financial gap from clinical trials to general use within the NHS," she says.

Andrew Hewitt, chairman of the Pituitary Foundation, the UK support group for patients with acromegaly, is quick to welcome the drug. "It is very encouraging to think that there is new hope for people suffering from this disabling condition," he says. "We get some desperate calls from people with acromegaly and because most people don't know it exists, the support they get can be limited compared to other diseases."

ACROMEGALY AT A GLANCE

* Acromegaly is a disease of the pituitary gland.

* It is caused when a tumour, almost always benign, develops on the gland and produces too much growth hormone.

* Acromegaly is very rare, with four cases per million people diagnosed each year.

* Those affected are usually aged between 30 and 50. If acromegaly develops in children, it can lead to gigantism (excessive height) as the growth hormone causes the limbs to keep growing.

* The first symptoms may be enlargement of the hand and feet and changes in the facial features.

* It may also cause vision problems, headaches, impotence, infertility and irregular periods.

* Previous treatments - surgery and radiation therapy - are not always effective. The new drug Pegvisomant is effective in 97 per cent of cases.

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