Lack of awareness and embarrassment have led to late diagnosis of acromegaly, a hormonal disorder that causes excessive growth, writes Nadia Badarudin
IT’S a Saturday afternoon and you are at your favourite shoe store. You want to try out that pair of chic pumps which caught your attention last month.
You put on the shoes in your usual size 7 but they do not seem to fit. You only manage to find the perfect fit in size 10.
You realise that your shoe size has changed gradually over the years but you haven’t given it much thought.
You blame your hormones instead although it does seem ridiculous for an adult woman’s feet to grow bigger long after puberty.
But this is the reality — and a painful one at that — for people living with acromegaly.
Their hands and feet slowly develop to become bigger, and their facial features become more prominent (e.g. protruding lower jaw, bigger tongue and enlarged nasal bone) over the years.
Acromegaly, which means “large extremities” in Greek, is a hormonal disorder in which the pituitary gland (a small gland in the brain) produces excessive amounts of growth hormone (GH) in the body.
The excessive GH is caused by benign or noncancerous tumour in the pituitary called adenomas.
Most commonly diagnosed in middle age, acromegaly is treatable but its slow onset usually leads to it not being diagnosed quickly and correctly.
The disorder makes sufferers susceptible to serious health consequences such as arthritis, bowel polyps, hypertension, obstructive sleep apnoea, diabetes and cardiovascular disease, among others.
The prevalence of acromegaly around the globe is rare, with only three or four cases out of every one million people reported every year.
Celebrities who suffer from the disorder include professional wrestler (the late) Andre The Giant and actors (the late) Richard Kiel and Ron Perlman.
In Malaysia, it is estimated that about 1,200 people are living with the condition. The Acromegaly Registry 2013-2016 shows that only 129 acromegaly patients between 20 and 70 years old are registered and undergoing treatment in 12 government hospitals nationwide.
I THOUGHT I’M FAT
“That shoe size incident happened to me. I realised that my feet had slowly grown three times bigger than when I was in university,” says secondary school teacher and mother of two girls, Asmanura Yahya, 41.
“I realised that my hands had grown broader too. Some of my fingers were not only big but had grown in an odd, twisted way at the joints. So I stopped wearing my favourite rings including my wedding band.
“Despite the changes, I thought that I had grown fatter and nothing else. I never thought they were symptoms of a hormonal disorder,” says Asmanura who was diagnosed in 2008 when she was pregnant with her second child.
Apart from the enlarged hands and feet, she also gradually experienced noticeable changes in some of her facial features like her jaw, nose, lips and skin.
“Every time I went back to my hometown in Kelantan, my family members commented that my skin looked darker, as if I was suffering from a skin disease. Some also noticed that my nose and jaw were broader.
“I was worried and I frantically tried almost every skincare product recommended by friends or as advertised on the TV or Internet.
“But that was all I did and I still didn’t think that it was another symptom of a disorder,” she says.
CONSTANT HEADACHE
It was Asmanura’s persistent headaches which led to the acromegaly diagnosis. Headaches are common in acromegaly.
“My husband was concerned because I had a headache every day. So he took me to Hospital Kuala Lumpur where I underwent various tests for months.
“I nearly gave up because nobody knew what was wrong with me until I met one endocrinologist. She was the one who pointed out the obvious acromegaly symptoms on my body and the tumour on the pituitary gland,” she says.
Asmanura had 90 percent of the tumour removed in a six-hour surgery in 2009, which was done several weeks after she delivered her baby.
Living with acromegaly means that Asmanura has to take medications and go for treatments for the rest of her life.
“I have to spend about RM800 for medication every month and go for a check-up every two or four months. Thanks to the constant monitoring, I feel much better now.
“My skin has improved and some of the enlarged features have actually shrunk. Now I can fit into a shoe size 9,” she says.
She is slowly regaining her self-esteem and feels more confident now compared to those years before the surgery.
“I hated how I looked in the mirror and I always felt down when my students made fun of my big, swollen lips and called me names.
“But it isn’t that bad anymore. However, I still don’t like to be photographed. If I can avoid it, I will,” she says.
Asmanura says acromegaly has taught her to value life and count her blessings. She also shares her knowledge and personal experience with other acromegaly patients and caretakers by being an active member of the Malaysian Acromegaly Society (MyACRO).
“I’m grateful that I can manage my condition and I don’t have other health consequences which are normally linked to the disorder.
“I hope I can share with other patients what I’ve been through and let them know that they are not alone in dealing with this rare condition.”
LATE DIAGNOSIS
“Acromegaly is a big problem for a small group of people,” says Dr Zanariah Hussein, consultant endocrinologist at Hospital Putrajaya.
It can happen during childhood or the teenage years. Often, patients are diagnosed in their 30s.
“In most cases, patients are detected with acromegaly only when they go to the hospital for chronic issues such as arthritis, visual loss, diabetes, bowel polyps, hypertension and thyroid as well as dental problems.
“The delay in diagnosis or absence of diagnosis is the issue here. Diagnosis is usually 10 years late and not all doctors are able to identify the obvious symptoms,” says Dr Zanariah who is Malaysian Endocrine and Metabolic Society president.
She says acromegaly can only be confirmed with a few tests including a growth hormone test, an IGF-1 test and MRI. However, since it is a rare disorder, the tests are normally not cheap and not easily obtainable.
“The tests are not available at all government hospitals, and different hospitals have non-standardised kits or procedures.
EXPENSIVE TREATMENT
The high cost of medication and treatments are other issues faced by patients.
Dr Zanariah says treatment comprises surgery to remove the tumour, medication and radiotherapy.
“The aim of treating or managing the hormonal disorder is to increase life expectancy of the patient as well as to prevent or reduce complications resulting from the co-morbidities.
“But they are expensive. Some patients have to undergo few surgeries while the cost of medication for each patient can range between RM800 and RM9,000 per month,” she adds.
Despite that, Dr Zanariah says the most important thing for patients to know is that acromegaly is treatable and can be managed.
“I understand that most patients are shy to come forward and discuss the abnormal growth or the significant changes they are experiencing.
“Some don’t even have the slightest idea that they have the disorder. That’s why awareness among general practitioners is important.
“Hopefully, more doctors are able to identify the obvious signs and symptoms,” she says.
For details on acromegaly in Malaysia and Malaysian Acromegaly Society (MyACRO) support group, contact myacromegaly@gmail.com