As Jennifer Paterson explains, early diagnosis is the key to the successful treatment of scleroderma, an uncommon yet chronic illness that affects the connective tissue of various parts of the body.
Imagine for a moment that in certain areas of your body the skin has begun to thicken and harden. Then on top of this you have painful sensitivity to the cold, frequent heartburn, stiff joints and various other problems. These are the day-to-day issues faced by sufferers of a rare disease known as scleroderma.
Literally translated as 'hardening of the skin', the disease has been classified by the Scleroderma Foundation as a "chronic auto-immune disease of the connective tissue".
Collagen, the binding material that holds the body together, is a protein found in connective tissue, cartilage, skin and bone. In scleroderma some as-yet unknown factor triggers the over-production of collagen, causing thickening and hardening of the skin and other organs. The disease also affects the small blood vessels, making oxygen supply to various parts of the body difficult.
Types of scleroderma
Scleroderma can basically be classified into two broad categories - localised scleroderma and systemic sclerosis.
Localised scleroderma is more common in children; usually found in only a few places on the skin or muscles and rarely, if ever, develops into the systemic form of the disease.
Rheumatologist, Dr Russell Buchanan notes that the localised form is "five to six times more common than the systemic."
Systemic sclerosis may affect the connective tissue in other parts of the body, for example the skin, the esophagus, gastrointestinal tract, lungs, kidneys, heart and other internal organs. It may also affect blood vessels, muscles and joints.
As both diseases share similar pathology the term scleroderma is used interchangeably when referring to either form.
Scleroderma can be difficult to diagnose. The first noticeable symptoms of the disease are usually tightening of the skin around the fingers and extreme sensitivity to cold.
Dr Buchanan comments that "two phase colour changes in the fingers on exposure to the cold - from white to red and then to blue - are often the first diagnosable signs of scleroderma."
Patients who develop systemic sclerosis will find that over a variable period of time (usually around 12 months) the skin on the hands/feet/torso will tighten. After about four years the opposite occurs, the skin regressing back - although not completely.
Most, but not all, scleroderma sufferers will have Raynaud's phenomenon, so this is often a good indication of the presence of scleroderma in patients with complementary symptoms.
Tests can reveal specific proteins, or antibodies, in the blood of sufferers. "Virtually all will have antibodies in their blood which are suggestive of scleroderma," Dr Buchanan says.
What causes it?
At present the exact cause of the disease is still a mystery. There are theories that suggest it may involve the immune system, the vascular system and/or connective tissue metabolism.
Scleroderma occurs in all countries and ethnic groups, with patients ranging from infants to the elderly. Symptoms usually appear between the ages of 30 and 50. Women in early to middle age are much more likely to develop the disease than men, which has lead some researchers to believe that some aspects of the disease may be hormonally related, however this has not been scientifically proven.
Treatment of the disease
Scleroderma is difficult to treat, because it varies so much from patient to patient, all of who may have a wide variety of different problems. Early diagnosis is essential and can vastly improve the disease prognosis.
Patients with newly diagnosed scleroderma should be checked every 6-12 months for a number of years. Tests can reveal specific proteins or antibodies in the blood of patients indicating who may develop kidney disease, lung fibrosis or pulmonary hypertension. It is vital that treatment is started as early as possible.
There are many drug treatments available including Iloprost infusions, which can successfully treat pulmonary hypertension as well as ulcers and other infections.
Dr Buchanan notes that in the benign form of the disease treatment is usually "supportive". For the more serious form of the disease doctors aim to lessen its severity "hopefully assisting it to go into remission", rather than providing a 'cure'.
He notes that he has seen patients, with what appear to be quite chronic symptoms, go on to lead long and relatively normal lives.
"That's the most important thing to stress about this disease - there are no definites, everybody's symptoms, and prognosis will vary."
Fore more information about Scleroderma please contact the Scleroderma Association on 1800 068 061