Living with the heavy burden of scleroderma

Debilitating skin disease can ravage vital organs, so early treatment is crucial

Hope in stem-cell therapy

For a few years, her hands would turn white and take on a bluish tinge whenever she was in her air-conditioned office or after she reached for a tub of ice cream .

But Ms Lee (not her real name) brushed it off, as her hands would return to normal after she put them under a sweater, for example.


Her condition slowly worsened, and she found herself battling acid reflux and sores on her fingers.

A few years ago, she could no longer tolerate the symptoms, and she decided to seek medical help.

She discovered she had systemic sclerosis, commonly known as scleroderma, which means "hard skin".


"I had never heard of it until then," said the freelance business consultant, who is in her 40s.

That is not surprising, as this autoimmune disease is rare.

But in the past year, doctors at both Singapore General Hospital (SGH) and National University Hospital (NUH) have diagnosed more of such cases.

Between 2013 and last year, there was a 30 per cent rise in patients going to SGH for treatment. NUH confirmed that it too had more cases, although it declined to give numbers.

In scleroderma, an abnormal immune system causes uncontrolled overproduction of fibrous tissue, which leads to scarring of organs and blockage of blood vessels.

It affects 50 to 300 people per million. The cause is unknown, although it tends to strike between the ages of 30 and 50. Also, women are four times more likely to develop the condition than men are.

A visible sign is skin hardening, which makes the skin tight and appear shiny and stretched, said Dr Andrea Low, a senior consultant who heads the rheumatology and immunology department at SGH.

The blood vessels also tend to spasm when the environment is cold, triggering what is known as Raynaud's phenomenon. Poor blood circulation makes the fingers turn blue or white in the cold, as in Ms Lee's case. This problem affects more than 90 per cent of those suffering from scleroderma.

A myriad of other symptoms CAN show up as well, such as puffy fingers, joint pain, shortness of breath upon exertion and difficulty in swallowing, said Dr Anita Lim, a senior consultant with the division of rheumatology at NUH.

The disease can damage the digestive system, heart, lungs, kidneys, muscles and joints, which can shorten the lifespan. For example, among patients whose condition has severely affected their guts, half die within 10 years.

The worrying thing is, patients are coming forward to get help only when they reach the later stages of the disease.

This makes treatment more complicated, said Dr Lim, as it is difficult to reverse organ damage. Both survival and quality of life would be adversely affected, she said.

According to a local study published in 2013, about 14 per cent of patients are unemployed because of this medical condition.

For patients who are in the prime of their working lives, the burden created by the disease is high, said Dr Low, who led the study.

Yet, very few useful treatments have been discovered. For now, treatment is centred mostly on alleviating symptoms and limiting organ damage.

There is hope, however, that research efforts will bear fruit in the next five to 10 years.

Currently, SGH is taking part in an international trial using autologous stem-cell transplants to treat such patients. This effort is being led by Northwestern University in the United States.

Researchers are working on the theory that the patient's immune system can be "reset" using stem cells, to regenerate a new immune system that does not attack the patient's body.

If this method proves effective, it would offer hope for the 488 patients here who are currently listed in a shared database. Pooled in this database are scleroderma patients being treated at SGH, NUH and Tan Tock Seng Hospital.

However, doctors think there could be more people living with this condition who are unaware that they are ill.

Their condition could be very mild, and might affect only their skin, so they might think it is just a part of life, said Dr Low.

Their internal organs could be affected five to 10 years later.

Dr Lim pointed out that Raynaud's phenomenon - one of the telltale signs of scleroderma - is common in the general population. It can occur even in healthy people.

To be on the safe side, a person can consider getting a checkup if he suddenly starts experiencing such symptoms as an adult, and the condition is getting worse, said Dr Lim.

Ms Lee, who stopped working full-time for a few years because of her illness, is starting to think about working more again.

The illness has affected mainly the skin and gut. "I feel better now," she said. "One of the medications I take helps reduce acid in the stomach, so I don't have so much reflux."

•The Reverie Rheumatology Research Fund was set up last year to accelerate discoveries. For information on how you can help, e-mail

A version of this article appeared in the print edition of The Straits Times on August 25, 2015, with the headline 'Living with the heavy burden of scleroderma'. Print Edition | Subscribe