13 September 2011

Acromegaly is often waved off as ‘gigantism’, but what many fail to see is the layers of pain and suffering that engulf those afflicted by it.

NOBODY called him Little Robert. Sure, he was only eight, but he towered above everyone else at six feet (1.8m). By the time he turned 12, he had already grown a foot taller. At the age of 18, he stood at eight feet, four inches (2.54m) tall and weighed 390 pounds (177kg).

He wore size 37 (US) shoes and his clothes had to be custom-made with three times the normal amount of cloth. He couldn’t fit into the family car, and so his father had to remove the front passenger seat – Robert could then sit in the back and stretch out his long legs. Frankly, that was the least of his problems.

His large feet had little sensation – he could not feel any chafing until blisters formed. He dreamt of becoming a lawyer, but the simple task of walking from one campus building to another proved to be too strenuous.

All Robert wanted was to live a normal life, but he was often written off as a “freak”. He was once quoted as having said: “It’s not my fault that I am this way.”

He passed away when he was only 22 in 1940, due to a septic blister on his right ankle. His final height was eight feet, 11 inches (2.72m).

He was Robert Pershing Wadlow – the tallest man in the world. His name appears in the Guinness Book of Records, but the fact of the matter is: he never did find out why he was born that way.

He wasn’t just someone “born tall”; what he had was acromegaly, a medical disorder caused by a small tumour in the pituitary gland, which produces excessive amounts of growth hormone. His condition has also been described as gigantism, which is pre-pubertal acromegaly.

Growth unlimited?

The pituitary is a small gland, about eight to nine mm in diameter, located below the brain. Its main function is to produce hormones that are essential for everyday living. The presence of a tumour will cause the enlargement of bones of the extremities, face and jaw, as well as an increase in hand and feet size.

According to Wouter W. de Herder and Jean Périé in “Acromegaly and gigantism in the 20th century”, people afflicted with the disease had it tougher in the past, and not just because there was no treatment available at that time; those with physical abnormalities were often used as show objects, either willingly or by coercion.

Mary Ann Webster was an acromegaly patient in the 1900s who shared all the classic physical symptoms of the disease: a prominent jaw, bulging forehead, as well as enlarged hands and feet.

When her husband died suddenly in 1914, she had no choice but to search for an adequate source of income to support her children. And so she entered (and won) an “Ugly Woman” contest. From then, she appeared with much success in countless circus sideshows.

But as expected, she was often made an object of ridicule up until her death in 1933. She was 59.

What not many people knew was that the mother of four had to deal with years of excruciating headaches, loss of vision, and joint and muscle pain, because of her condition.

Being “different” was certainly a profitable profession, though one was exploited in “freak shows” more often than not. Those who suffered from acromegaly were troubled by various disorders, yet nobody could get past the fact that they were “weird-looking”.

Finding the right cure

While gigantism can now be identified and treated at a very early stage, acromegaly still goes undiagnosed – some, for up to eight years.

Senior consultant physician and endocrinologist Dr Nor Azmi Kamaruddin, who is also president of the Malaysian Endocrine and Metabolic Society (MEMS), has only identified 60 acromegaly patients in the country since 1994.

“Everywhere around the world, acromegaly is regarded as an ‘orphan’ disease. On average, there are 40 to 125 cases of acromegaly per one million population. For a country of 26 million, there might be 1,000 to 3,000 patients with acromegaly, yet a lot of them remain undiagnosed,” he says in an e-mail interview.

But being tall does not necessarily equate to having acromegaly, as in the case of China’s Yao Ming (NBA star) and Bao Xishun, who is currently the world’s tallest living man at seven feet, nine inches (2.36m). Some just have taller genes than others.

For adults afflicted with acromegaly, instead of growing taller, they actually grow “bigger”.

“If the disease starts after adulthood, all the bones have already fused and lost the ability to lengthen. Thus, the most common symptoms involve changes to the facial features and the size of hands and feet,” says Dr Nor Azmi.

Although the tumour giving rise to acromegaly is not cancerous, it does bring with it a host of other diseases, such as diabetes, hypertension, kidney stones, certain cancers, and arthritis. As the tumour enlarges, it may compress the optic nerves, resulting in restricted vision, and later, blindness, adds Dr Nor Azmi.

For the treatment of acromegaly, a patient has three options: surgery, radiotherapy, and medical therapy. “If the tumour is less than one cm in diameter, the chance of cure through surgery is about 90%.

Radiotherapy is usually reserved as a second line treatment for patients whose tumours were not cured through surgery,” says Dr Nor Azmi.

“Medical therapy comes in the form of injections of hormones that either block the production of growth hormones (somatostatin analogues) or oppose the action of growth hormones (pegvisomant). The major constraint to these two forms of treatment is cost, and the fact that they may have to be administered for life.”

The cost of a monthly injection of somatostatin analogues range from RM4,000 to RM6,000, while that of pegvisomant could go as high as RM150,000 per year of treatment.

If left untreated, acromegaly can be fatal. “Further hormonal deficiencies will develop over the years. These will affect the general well-being of the patient as these hormones are essential for cardiovascular health, intellectual function, overall metabolism and sexual function.

“Together with diabetes and hypertension, excessive growth hormones result in deaths due to heart diseases and strokes, not to mention a small increase in the incidence of cancers. A medical emergency called pituitary apoplexy, which is a haemorrhage of the pituitary gland, may lead to death due to the dramatic loss of pituitary hormones,” explains Dr Nor Azmi.

“If the condition is cured, most of the facial and skeletal abnormalities regress to a certain extent; complications such as diabetes and hypertension will improve significantly. Vision defects in most instances will improve unless the condition has been left unattended for years.”

Acromegaly happens, but not always out of the blue. “The condition cannot be prevented. However, in a small percentage of patients, the disease is hereditary – members of the family can then be screened for acromegaly at an early stage,” says Dr Nor Azmi.

Identifying acromegaly

According to Dr Nor Azmi, acromegaly is diagnosed using an oral glucose tolerance test (oGTT) that measures the by-product of the growth hormone secretion called Insulin-Like Growth Factor-1 (IGF-1) in the blood.

“During the oGTT test, the patient is given a drink of glucose while the blood levels of growth hormone are measured every half an hour over a two-hour period. Normally, growth hormone levels will come down with the administration of glucose, but not so in the case of acromegaly.

“Once the blood tests confirm the presence of excessive growth hormones, the patient will then undergo an MRI of the pituitary area of the brain to determine the precise size of the tumour in the pituitary gland.”

There is no gender difference for the condition. “But since it is a slow, progressive chronic disease, it tends to occur more commonly in adults,” says Dr Nor Azmi. Also, if you have both diabetes and hypertension, it doesn’t necessarily mean that you have acromegaly.

“Both diabetes and hypertension are very common in most countries of the world. They tend to occur together. The conglomerate of these diseases is called metabolic syndrome. The presence of both conditions in an individual in almost all cases is not due to acromegaly.”

This article was published in www.thestar.com.my on 12 June 2011.