Flinders Medical Centre Foundation
Flinders Medical Centre Foundation


Seeking Solutions For Scleroderma


Scleroderma - Unlocking The Mystery

Seeking Solutions For Scleroderma
First Published: ENews - February 2010

February is national Scleroderma month, and as home to Australia’s only population-based register of scleroderma sufferers Flinders is at the forefront of research which is helping patients with this rare disease live longer.

About 25 South Australians are diagnosed each year with scleroderma, a disorder which causes damage to and loss of the capillaries which deliver oxygen to the skin. This leads to hardening skin, ulcerations over joints and impaired mobility.

Scleroderma’s most serious form can also severely shorten the sufferer’s life by causing fibrosis (thickening of the tissue) of the internal organs.

Established in 1993 by Professor Peter Roberts-Thomson and his team in the Department of Immunology, Allergy and Arthritis, the South Australian Scleroderma Register tracks the prevalence and incidence of the disease in South Australia.

Recently, the database has been expanded to include autoantibodies (specific blood markers) for scleroderma and survival data. Clinicians can now use this information to determine the type of scleroderma the patient has, prognosis, and how best to proceed with treatment.

“Patients are now living longer because of better management,” Prof Roberts-Thomson said.

Prof Roberts-Thomson and his team hope to determine the cause of the disease and whether its progress can be halted by looking at the capillaries which are damaged in its early stages.

Honours student Karen Patterson is using video imaging of the blood vessels at the base of the fingernail (one of the first places to show signs of damage) to track the changes that occur over time.

It is hoped the project will lead to a better understanding of the pathological processes that cause the loss of capillaries.

“If we could understand why the blood vessels are being damaged we could hopefully interfere with that process and block it,” Prof Roberts-Thomson said.

First Published: Investigator - June 2009

Scleroderma literally means ‘hard skin’ and is a disease of the body’s connective tissue. It is thought to be an example of an auto-immune disorder where the body’s immune system starts to attack the body.

Professor Peter Roberts-Thomson, Clinical Director of Immunology for SA Pathology and Bachelor of Science Honours student Karen Patterson discuss the disease and their latest research.

What is scleroderma?

Scleroderma (also called Systemic Sclerosis) is a disease of the body’s connective tissue. The human body is held together by meshes of connective tissue. These ‘nets’ consist of a strong, fibrous collagen, stretchy elastin and a substance called proteoglycan. People who develop scleroderma overproduce collagen, which can result in the connective tissue and skin becoming hard and tight. Scleroderma can affect just the skin, or more seriously, internal organs including the heart, lungs and kidneys.

How common is it?

Up to one in 5,000 Australians may have one of the different forms of scleroderma. It is more common in people aged between 20 and 50 and affects women more than men.

What causes scleroderma?

The cause of scleroderma is unknown. However, the strongest risk factor is a family history of scleroderma but other risk factors are believed to include occupational exposure to silica dust (which is commonly seen with miners) and chemicals like polyvinyl chloride (PVC).

How do you know if you have it?

One of the most common symptoms of scleroderma is thickening and hardening of the skin, often on the hands and face. Other symptoms can include:

  • fingers and toes going white, blue and then red in response to cold and heat (a condition called Raynaud's phenomenon)
  • pain, stiffness, and swelling of fingers and joints
  • tight mask-like skin on the face, and shiny skin on the arms
  • ulcers on fingertips or toes
  • heartburn
  • shortness of breath
  • fatigue

Are there different types of Scleroderma?

Yes. Scleroderma is broadly classified according to the amount of skin and internal organs affected by the condition – limited scleroderma and diffuse scleroderma. The latter is a more serious form of the disorder as there is more extensive skin involvement and the internal organs are more severely affected.

How can it be treated?

There is currently no cure for scleroderma but it is possible to successfully manage many of the symptoms of the disease. A number of clinical trials are currently underway involving exciting new drugs but it will 1-2 years before the results are made public (as scleroderma is an uncommon disease and it takes time to recruit sufficient patients for these trials).

How is scleroderma diagnosed?

Scleroderma is diagnosed using a range of medical tests including history and physical examinations, blood tests including a test for autoantibodies (antinuclear antibodies or ANA) and tissue biopsies.

How is scleroderma managed?

Managing the disease depends on its severity, but may include medications such as immunosupressives, lifestyle changes, gentle exercise, stress management and various aids and equipment.

Is there any new research in the area?

Flinders is at the forefront of research into scleroderma. Over the last 15 years Prof Roberts-Thomson and his team have established the South Australian Scleroderma Register which attempts to identify every new patient in SA with this condition. From analysing data common to each patient it has been found that the important risk factors for this disease in SA include a positive family history, being female and being born in Europe (as compared with being born in Australia).

Investigations have also focussed on the specific auto-antibodies in the blood characterising this condition and their help in making an early diagnosis and their prediction for future disease outcome.

Damage to small blood vessels is an early and prominent feature in scleroderma. For her BSc (Hons) Karen Patterson is investigating this vascular damage at the base of the finger nail (nail fold capillaroscopy) using video-microscopy (combining a microscope with a computer) and investigating factors which may accelerate or inhibit this damage.

Such studies are increasing our understanding of the basic pathology of this disease and may help us develop specific tests for early diagnosis and for medication which may inhibit this vascular damage.

Scleroderma - Unlocking The Mystery
First Published: Investigator - January 2003

Scleroderma is an uncommon immune disorder where the skin becomes hard and thickened and the patient literally becomes entrapped in their own skin. The sufferer's life is frequently shortened due to the thickening or fibrotic process also impairing internal organs.

South Australia has one of the highest scleroderma prevalence figures in the world with around 350 sufferers registered. The usual age of onset is between 40 and 60 years.

Unfortunately the cause of scleroderma is unknown and there is no specific treatment.

At Flinders Medical Centre, Professor Peter Roberts-Thomson and his team in the Department of Immunology, Allergy and Arthritis are investigating the reasons behind why the body turns against itself and produces hardened skin with distressing joint contractures.

They have recently completed an epidemiological study into the genetic component of the disease to ascertain whether sclerodema can be inherited. The study showed that the disease is more common in immigrants born Europe (particularly Greece and Italy) as well as people that may have been exposed to silica dust. However there is not enough evidence to show that any particular job is more likely to cause the disease.

However the study has been unable to explain why the disease is also more prevalent in women than men with a ratio of 4:1.

In addition to using the epidemiological study, the team is also researching the disease on a micro-vascular level. A microscopic examination of the skin's blood vessels, will then be carefully examined to hopefully determine how they are being damaged.

Professor Roberts-Thomson said that the establishment of a South Australian register for scleroderma sufferers has had many benefits for the advancement of knowledge about the disease.

"Having a register allows continuous in-depth research work as well as the trial of new therapies in controlled studies. Because of this, we have been able to recently study a new treatment called anti-endothelin which neutralises one of the substances released from the small blood vessels. In time we hope to be able to unlock the mystery surrounding this disease and offer some form of life-saving treatment for its sufferers."

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