3 May 2011
While acromegaly usually does not make adults tall giants as gigantism do in children, it comes with a host of other health problems.
THE changes were so gradual, it took former accountant Ling Poh Hwa and his doctors five years to figure out he had acromegaly – a condition where there is an excess of growth hormones in the body. His annual blood tests showed a steady rise in his blood alkaline phosphatase* (ALP) level, but nothing else seemed to be wrong with him.
He did feel a little more drowsy but he didn’t feel it was much of a problem. “I always seemed to be dozing off, even when I was driving. But I got so used to it I didn’t even take it seriously,” he recalls when speaking to Fit4Life about his condition.
It was only in 2004, five years after his ALP levels started to rise, that his blood calcium levels shot up. “That was when my doctor got worried and asked me to consult an endocrinologist,” he explains. It took two endocrinologists (specialists who diagnose and treat diseases that affects our glands) to reach a diagnosis, but this is common when it comes to rare diseases such as acromegaly.
If you go by world statistics that estimate an average of 58 out of a million people have the disease, Malaysia will currently have more than 1,000 people with acromegaly. However, there are no local epidemiological and demographic statistics of acromegaly in Malaysia.
“Acromegaly is commonly under-diagnosed in Malaysia,” replies consultant endocrinologist Dr Zanariah Hussein, who sees two to four such patients per year at her centre in a public hospital, in an email interview. “Many patients had been receiving treatment for hypertension and diabetes for years without being noticed (of their physical appearance) by their usual doctors,” she explains.
The science of big
Increased blood pressure levels (hypertension) and sugar levels (diabetes) in patients with acromegaly are among a few of their body’s response to the excess of growth hormones in their body. The most common cause of this excess is the growth of a tumour of the pituitary gland (in the brain) that arises from the growth hormone-producing cells.
It is extremely rare for this to happen in children and adolescents. But when it does, it is called pituitary gigantism (which many of us may be more familiar with). Unlike adults, children and adolescents can continue to grow into tall giants as a result of the excess hormones. Ling, who developed the condition in his 50s, still stands at his initial height – five feet and seven inches tall.
People whose genetic makeup codes for a very tall stature without an excess of growth hormones (like Yao Ming and many NBA basketball players), however, are not considered to have gigantism.
The US National Endocrine and Metabolic Diseases Information Service summarises acromegaly in four quick sentences, which does not reflect the years it takes to develop: “The name acromegaly comes from the Greek words for ‘extremity’ and ‘enlargement’, reflecting one of its most common symptoms – abnormal growth of the hands and feet.
“Swelling of the hands and feet is often an early feature, with patients noticing a change in ring or shoe size, particularly shoe width. Gradually, bone changes alter the patient’s facial features. The brow and lower jaw protrude, the nasal bone enlarges, and the teeth space out.”
Other symptoms include joint aches, enlarged lips, nose, and tongue, deepening of the voice due to enlarged sinuses and vocal cords, fatigue and weakness, headaches, and impaired vision (a large pituitary tumour can compress the optic nerve).
“Acromegaly is often diagnosed in adulthood; the average age at diagnosis is 44 years old,” says Dr Zanariah. “There is often a delay in diagnosis and patients typically have had symptoms for about eight to 10 years before the diagnosis is made.”
After another blood test, called the Insulin-like Growth Factor-1 (IGF-1), and an MRI to locate the pituitary tumour, Ling was finally diagnosed with acromegaly. But only in retrospect, Ling realises that there were indeed changes that he was unaware of. His palms grew wider, which gives his hands an appearance his doctor describes as “spade-like”, his voice took on a lower pitch, and his shoe size went from a size eight to a size nine.
When his doctor asked him to bring photos of him 10 years ago, he could see the differences more clearly. “My forehead and jaw is growing out and my nose is bigger. My skin is also much thicker and rough,” he says.
The surgery he underwent a day after his diagnosis to remove his tumour has helped return his skin, voice, and nose to its normal state, but the growth of his hands and legs, and changes in his facial features are irreversible.
Giant options
In a minority of cases, people with an excess of growth hormones may have the physical appearance of acromegaly without biochemical abnormalities or radiological changes of a pituitary tumour, says Dr Zanariah. There are also some who may have had the tumour in the past and have recovered from it.
However, the majority of patients (70-80%) will present with active disease and large pituitary tumours (beyond 1cm). A smaller number (20%) may have smaller tumours (below 1cm), but all active tumours require treatment.
“Acromegaly should be recognised earlier,” says Dr Zanariah. “Primary care doctors should be able to detect the disease, perform simple screening tests, and subsequently refer patients to an endocrinologist for evaluation, treatment and long term follow-up care.”
Endocrinologists who treat acromegaly aim to bring their patients’ growth hormone levels down to normal levels, relieve the pressure from the tumour on the optic nerves and surrounding areas of the brain, and reverse or improve the symptoms of acromegaly.
Currently, treatment options for acromegaly in Malaysia are surgery, medical therapy, and radiotherapy.
Transphenoidal endoscopic surgery, a minimally invasive surgery to remove the pituitary tumour through the nose, is the first-line treatment regardless of the tumour size. Unfortunately, surgery is often not curative for larger tumours.
However, as medical therapy with injections of somatostatin analogues (SSA) every few weeks have recently been proven to be as effective as surgery in reducing tumour size and controlling growth hormone production, many countries (such as in Europe, UK and the US) have considered it as first-line therapy, says Dr Zanariah.
“Currently, most patients who have undergone initial surgery may need second-line treatment with medical therapy or radiotherapy for persistent disease,” she explains.
Besides treatment for their acromegaly, people who have the disease may require medications for diseases they are more likely to have due to their condition. “Acromegalics have higher rates of hypertension, diabetes, and heart disease and require medications for these conditions,” says Dr Zanariah. “It is important to follow a healthy diet and lifestyle to optimise control of these related conditions.”
Ling was one of the lucky ones, who besides a slightly elevated blood sugar level, has not experienced much of other related conditions – like hypertension and arthritis – after almost six years of living with the disease. However, as his heart muscles have thickened and become less effective in pumping blood throughout his body, he gets exhausted very fast during exercise.
“I can’t do marathons, so every morning I go for qigong,” he says. “It helps a lot.”
Besides taking daily and monthly hormone replacements to replace the hormones (like thyroxine, cortisol and testosterone) usually produced in the presence of growth hormones, life stays pretty much the same for Ling.
“You know you’ve got to embrace it as part of whatever that comes in life, because there’s really nothing much you can do,” he says. “So, you take it as it is and try to lead a normal life.”
* Alkaline phosphatase (ALP) is an enzyme found in all tissues in the human body, but it is most concentrated in the liver, bone, kidneys, bile duct and placenta. The ALP blood test is typically used to detect liver and bone diseases.
This article was published in www.thestar.com.my on 12 September 2010.