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
- shortness of breath
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.