KUALA LUMPUR, – Those affected might not notice anything abnormal about their bodies until their extremities start to grow ‘excessively’ when they reach their early 20s.

For these unfortunate individuals, their bone structures change and they become taller, their hands and legs become larger and longer, while their facial structure also changes, with the jaw becoming more prominent.

Not only that, they begin to lack self-confidence and suffer from severe headaches, apart from visual disfigurements. They also begin to experience various health complications and the quality of their lives deteriorate.

These people are suffering from a metabolic disorder known as acromegaly.

GROWTH DISORDER

According to Prof Dr Nor Azmi Kamaruddin, who is president of the Malaysian Endocrine and Metabolic Society (MEMS), acromegaly is a syndrome that is brought on by the pituitary gland producing excessive growth hormones following puberty.

The name acromegaly comes from the Greek, where ‘acro’ means extremities and ‘megaly’ is translated as enlargement.

“Acromegaly is a rare chronic metabolic disorder found in about 60 out of one million human beings. In Malaysia, the sufferers total about 1,000 to 3,000,” Dr Nor Azmi said at a workshop here.

He added that the disorder is difficult to diagnose at an early stage due to the rather slow development of symptoms, causing the disease to be detected only 10 to 15 years later.

But the problems can be alleviated if the symptoms are discovered at an early stage, he said.

“That is why public awareness is important so that suspected cases can be given the necessary treatment quickly,” said the endocrine consultant, adding that early treatment can help to alleviate the social stigma related to this disorder, allowing the sufferers to have a normal life.

Dr Nor Azmi said that in western and developed nations, early detection has resulted in almost no ‘acromegaly giants’ being found in these nations.

PITUITARY GLAND

Dr Nor Azmi said the pituitary gland is located in the brain and a tumour developing in the gland may cause it to discharge excessive growth hormone (GH).

How the tumour develops is still a mystery, but scientists attribute the growth to spontaneous mutation of a cell within the gland after birth, he explained.

He said this disorder can happen to anybody and is not an inherited genetic problem, but there is a unique case in Malaysia where three siblings are found to be suffering from acromegaly.

Dr Nor Azmi noted that there are two categories of complications; one is related to the position of the tumour and the other to the excessive secretion of GH.

According to the endocrinologist, the excessive secretion of GH and the insulin-like growth factor (IGF-I) are the cause of acromegaly symptoms, while the pituitary gland tumour or adenoma is of three types – microadenoma, macroadenoma and giant adenoma.

“Depending on the size of the tumour, the main symptoms (of acromegaly) are severe headaches and visual disfigurement, apart from the obvious physical changes.

“When the pituitary gland enlarges it will compress the opthalmic nerves at the optic chiasm, causing the sufferer to be partially blind,” he noted.

HORMONAL DISTURBANCES

Injuries to the pituitary stalk may result in increased discharges of the hormone prolaction into the blood stream, causing additional discharges of, among others, the glucocorticoids and thyroid hormone.

He said this might result in abnormalities in the natural body system, such as in growth, energy levels, production of proteins and sensitivities to other hormones.

The soft tissues are sometimes altered, causing the body to emit excessive sweat, or develop macroglossia or thick tongue, which affects speech.

This hormonal imbalance will also cause gigantism, where there is excessive growth of the hands, feet, forehead and other facial structures, including the jaw.

“This disorder also exposes the patient to various health complications that involve the heart and lungs, as well as cardiovascular diseases such as hypertension, diabetes and sleep apnea,” explained the endocrinologist.

DIFFICULT TO DIAGNOSE

In its early stages this disorder is difficult to diagnose, as doctors might confuse it with symptoms of other problems, such as ageing.

Dr Nor Azmi explained that doctors in clinics might misinterpret these symptoms and treat them accordingly, instead of suspecting a growth in the pituitary gland.

Dr Nor Azmi advised patients who have symptoms similar to acromegaly to consult websites on this disorder and discuss the information with their attending doctor.

“This enables the doctor to pose relevant questions and study the patient’s medical history more closely, before taking the appropriate medical measures,” he said.

The diagnosis can be checked via blood tests to detect the IGF-1 level, as well as oral glucose tolerance test to verify the increase in GH level, he explained.

Suspected cases will be referred to specialists, where a Magnetic Resonance Imaging (MRI) is performed to detect the presence of any pituitary adenoma.

TREATMENT

The four main aims of treatment are to reduce the excessive discharge of GH, reduce the pressure exerted on the brain by the pituitary tumour, retain the normal functions of the pituitary gland and reverse the symptoms of acromegaly.

“Based on the size and location of the tumour, as well as the age of the patient, the pituitary adenoma is treated according to three modes of therapy, which are surgery, chemotherapy and radiotherapy, or their combinations,” he said.

Dr Nor Azmi added that the main choice of treatment is surgery, since it can be performed quickly and is more effective, despite the success rate being only 50 per cent.

“If the surgery is successful and the hormone returns to its normal level, the tumour can still return and the patient will have to be monitored for several years.

“At times, the hormone level does go down, but does not reach its normal level, and this requires additional therapy, usually with medication”.

Dr Nor Azmi added that the tumour should be treated immediately, since if it continues to grow the gland might burst, causing drastically diminished functions of organs in the human body.

Source: BERNAMA.com