LEARNING ABOUT SCLERODERMA: General Information sheets: NEVDGP

Scleroderma, also known as systematic sclerosis, is an uncommon but not rare disorder. Many patients, when told they have this problem, find it difficult to find further information on this condition. In particular, it is common for scleroderma to be portrayed "in the wrong light" without an understanding of the type of scleroderma that they have, and also the extent of the condition in their particular case. This information is extremely important as it provides the patient with an understanding of their outlook - what the disease on average might do to the patient and how the disease will affect their future.

An appropriate understanding of scleroderma, especially the way it affects the individual with the problem, is the first pre-requisite for gaining self management skills. The management of any chronic illness requires an interaction between the patient, their doctor, other health professionals and their family and friends.

Even in the recent past, scleroderma was regarded as a disease with the potential to cause considerable disability, and one that might even cause death. However, the perspective on scleroderma has changed considerably. It is now recognised that it is far more common than it was believed to be, and milder form manifest in many people who never develop more serious disease. Furthermore, whilst a cure is not yet available, a large number of treatment options are now available for the various manifestations of the condition. There is no doubt that the outlook for someone with scleroderma diagnosed nowadays is considerably better than ever before.

Nevertheless, scleroderma needs to be taken seriously and patients are advised to have reviews and follow appropriate medical advice carefully.

What is scleroderma?
Scleroderma (systemic sclerosis) is a systemic connective tissue disease. One of the hallmarks is the thickening or hardening of the skin. This is literally what the word means in Greek - (sclero = hard, derma = skin). However the term systemic sclerosis is probably a better name as it tells us more about the condition. This name indicates that (a) it is a systemic disease, that is, it may affect many parts of the body, and (b) sclerosis is the medical term for the thickening or hardening of the tissues which is a major factor of this condition.

Who suffers from scleroderma?
Scleroderma affects both sexes, with a female to male ratio of around three to one. It can occur at any age although the peak incidence is 40-60 years. The condition can occur in children although this is rare. It has been reported in most countries throughout the world and in most racial groups. It is less common in Black Africa and Polynesia. The condition is not hereditary, however, very commonly, it may be seen in more than one member of a family.

It is known that the immune system in patients with scleroderma is activated. One example of this is the presence of autoantibodies in most patients with scleroderma.

Antibodies are proteins which are normally directed against foreign substances such as bacteria. They are a normal part of the body's immune system and are an essential defence against infection. However, if these antibodies develop against parts of your own body (autoantibodies), they can cause disease.

In addition other parts of the immune system are activated in this disease. Lymphocytes, which are the cells of the immune system, can be found in increased numbers in tissues affected by scleroderma. It is likely that they release chemicals which initiate the damaging process.

In many small blood vessels in patients with scleroderma, the lining cells and the wall of the blood vessels thicken causing narrowing of the lumen (diameter) of the blood vessel. In addition, the ling cells become more activated making them more sticky. This results in a tendency to increased clotting of the blood within the blood cells.

The combination of these two processes leads to a reduced blood flow through the small blood vessels, thus reducing the blood supply to the affected tissues.

These processes are partly responsible for the Raynaud's phenomena which is very common in patients with scleroderma. In addition to this, more fixed narrowing of the vessels, contraction of the muscle in the walls of small arteries in response to cold or emotion, causes further reversible narrowing of the blood vessels.

3. CONNECTIVE TISSUES

Substances released by the immune system can also activate cells called fibroblasts. These cells produce collagen which is normal structural protein or building block of the connective tissue throughout the body. In people with scleroderma, some of the fibroblasts become overactive and produce excessive amounts of collagen. The body is unable to clear this excessive collagen and it therefore accumulates, causing excessive thickening and hardening of the tissues affected. This is most easily demonstrated in the skin of patients with this condition and is the cause of the characteristic swelling and tightness that develops. The process can occur in other tissues in the body.

Is scleroderma becoming more common?
Probably not, although, as previously indicated, there is increasing recognition of scleroderma by doctors and patients alike through better education and better knowledge of the subtle early signs of the condition.

What are the different types of scleroderma?
There have been many attempts to classify scleroderma so that patients and doctors can plan appropriate management of the condition. This is because the condition varies widely in different patients, with some patients having only a very minor problem with never any progression of the disorder, whilst others can have a very serious illness. Luckily, the majority of patients have the milder disease. Basically there are two types of scleroderma. The first is termed limited and the second diffuse. The extent of skin involvement is used to divide the patients into these two groups. In general the skin involvement in scleroderma begins at the fingers and spreads up the arms. Some thickening of the skin of the face is very common, and in some patients the legs are also involved. In the legs, the skin thickening tends to begin on the foot and spread up the leg. Patients are classified as limited if, in addition to the involvement of the face, there is thickening of the skin from the hands only to the elbows, and in the legs, if the thickening extends from the foot only as far as the knee. Patients are classified as diffuse if three is more extensive spread of the skin thickening, that is, the skin of the upper arms, thighs or trunk is involved.

Limited scleroderma usually causes Raynaud's phenomena and hardening of the skin in the hands. There may be some changes in the facial skin and as indicated above, occasionally there is thickening of the skin on the forearm and lower leg. Oesophageal problems are common. Although, as indicated in Table 1, occasionally other internal organ involvement does occur only after many years of the disease. The onset of limited scleroderma is often very slow, and any progression of skin involvement is also very slow occurring only after many years. The outlook for limited scleroderma is very good.

Diffuse scleroderma affects the skin not only on the hands and forearms but it can also affect the skin on the trunk, upper arms and thighs. Patients with this condition often have a more systemic illness with the scleroderma process potentially affecting many other organs and tissues. This type of scleroderma often requires more intensive treatment, and some patients with this type have a serious disorder. Diffuse scleroderma generally has a fairly rapid onset of disease with the skin thickening spreading rapidly over a few months. However skin thickening can remit after several years with little long term damage, assuming the patient did not have any significant problems in the first few years of the disorder when it was active.

Occasionally scleroderma may occur in conjunction with another connective tissue disease. For instance, some patients have features of systemic lupus erythematous or polymyositis and , yet, also have dominant features of scleroderma. Such patients are said to have an "overlap syndrome". The scleroderma part of this problem is treated the same way as if scleroderma was occurring by itself.

CREST is another name sometimes used to describe a subgroup of patients with scleroderma. This term was more commonly used in the past but nowadays it is used less commonly as classification into limited and diffuse has been found more useful in predicting long term outlook.

CREST is the acronym for the clinical combination of Calcinosis, Raynaud's phenomena, oEsophageal problems, Sclerodactyly (stiff fingers) and Telangiectasia (small dilated red vessels in the skin of the hands or face). Most patients with CREST have limited scleroderma.

Morphea is a condition related to scleroderma which is sometimes called localised scleroderma. In this condition there are localised patches of thickened skin. Patients with this condition do not have Raynaud's and do not have any internal organ involvement. The long term outlook is excellent.

Manifestations of scleroderma
The most common clinical manifestations of scleroderma are thickening of the skin and Raynaud's phenomena. The extent and severity of these problems varies widely among patients, with many patients only ever developing minor thickening of the skin on the face and fingers (limited scleroderma), whilst, at the other end of the spectrum, some patients with diffuse disease do develop extensive thickening of the skin on the arms and trunk (diffuse scleroderma). Fortunately the vast majority of patients have the milder form of the disease. The site commonly involved is the oesophagus, however, as indicated in Table 1, occasionally other organ involvement does occur. Table 1 indicates the percentage chance of developing different problems with the different types of scleroderma. Care must be taken in looking at this chart. These figures are approximate, and represent any involvement of the particular organ over many years of the disease. They do not indicate whether the organ's involvement is mild or severe. For instance, Raynaud's phenomena may be a mild problem with scleroderma, or a quite devastating one with finger ulcers and other problems in others. Similarly, some patients may have mild pulmonary fibrosis (lung involvement), causing no symptoms and detectable only on x-rays, whilst others might have very severe disease. Fortunately severe disease in different internal organs of the body due to scleroderma is uncommon.

Table 1: Manifestations of Scleroderma

Diagnosis
Diagnosis of scleroderma is usually based on the presence of Raynaud's phenomena and changes in the skin. Diagnosis may be supported by investigations including the presence of anti-nuclear antibody.

However, many patients who present with Raynaud's phenomena do not have scleroderma as a cause for that problem. There are numerous causes for Raynaud's phenomena. Indeed many normal people have mild degrees of this problem. Raynaud's phenomena is a reversible skin colour change usually affecting the fingers. There are usually three phases - white to blue to red - due to cold induced spasm or narrowing of the small blood vessels of the fingers. Emotion can also cause this response. Some patients with scleroderma have cold induced blanching of the fingers or finger tips without three phases in the colours, and others have cold aggravated and persistent severe bluish discolouration of the finger tips known as acrocyanosis (blueness of the peripheries). Raynaud's phenomenon or similar problems should alert one to the possibility of scleroderma.

The next clue to diagnosis is involvement of the skin. Thickening or hardening of the skin in the fingers is characteristic of scleroderma. This may occur very slowly, and it may take some time to appreciate the changes. Subtle changes may not be initially appreciated. The Raynaud's and skin changes usually, but not always, precede other problems. Therefore occasionally other problems in other parts of the body may alert one to diagnosis. Antibody tests can be supportive of the diagnosis if skin changes are not typical. A number of autoantibodies are seen in scleroderma (see Table 2).

Guidelines to interpretation of the antinuclear antibody test (ANA) in scleroderma are as follows:

Table 2: Autoantibodies in scleroderma

Early prognostic indicators
As we have mentioned, scleroderma is extremely variable in severity and progression. Mild cases are more common than previously recognised. At this end of the spectrum, patients have clinical involvement limited to the fingers and do not develop symptomatic organ involvement, except perhaps in the oesophagus. At the other extreme are cases with diffuse marked skin thickening involving most of the body and early severe internal organ involvement.

The extent of skin involvement within one year of presentation can be a guide to predict outcome. Limited scleroderma (skin involvement of only hands, forearm, face and lower legs) has a very good survival rate compared to diffuse scleroderma (skin involvement of upper arms, thighs and /or trunk), where some patients have severe medical problems due to scleroderma.

It is extremely rare for a patient who, after one year of disease onset has limited disease, to progress to diffuse disease.

Emotional problems
Scleroderma, as with any chronic disease, is cause for emotional involvement. From the first frustrations of diagnosis, to coping with a long-term illness which may alter their life-style, the patient encounters stress. The "grief process" is a very real part of the patient's adjustment, and each will cope in their own way. In varying degrees, each will pass through the stages of shock, denial, anger, bargaining and finally acceptance. After the initial shock of diagnosis, the patient may deny the illness. Fear of the unknown causes anger and "blame placing". Bargaining (with God or another figure) may take place. Depression is often a natural reaction to chronic disease, so emotional support is a major factor in the treatment of scleroderma.

With acceptance, there may be a need to adjust the life-style and this can involve the entire family. All are affected by the emotional impact of the disease, and keeping communication open is essential. Helping the patient adjust may require some role changing by the family. Certain tasks may be allotted differently. If problems are too difficult to resolve family counselling may be of benefit.

Conclusion
Scleroderma is a disorder with a wide range of manifestations. Although in a small percentage of patients serious manifestations may occur, in the vast majority it is a less serious disorder with patients having a normal life expectancy and a normal ability to cope with most daily activities. Whilst there is a t present no cure there are many treatments which can ease the symptoms of the disorder. Extensive research into the cause and treatment of this disease is occurring worldwide and the outlook for sufferers has never been better.

Patients with this condition should have regular medical supervision and should always seek medical advice about new symptoms. It is generally recommended that patients with limited disease be reviewed every 6-12months while those with diffuse disease should be reviewed at least every 3 months for the first five years of the disease then 6 monthly reviews may be adequate if there have been no complications.

Remember, attack the problems you have and don't look for new ones. Enjoy the life you have but don't expect perfect health. Many of the most important things in life were done by people who were not feeling very well.

The Scleroderma Foundation of Victoria Inc. was established in 1979. It grew out of the efforts of a small group of people who recognised that sufferers often felt alone and isolated.

Membership is open to people with scleroderma, their family and friends. Through meetings, newsletters and literature, members are kept informed on the latest medical research, medical treatments and hints for daily living. The foundation maintains contact with similar organisations throughout Australia and overseas.

For more information please contact:

Scleroderma Victoria Inc. is located at:
St. Vincents' Hospital, (2nd Floor, Daly Wing, West),
41 Victoria Parade, FITZROY, 3065, VIC, AUSTRALIA..
Phone: +61 (03) 9288-3651. Fax: +61 (03) 9288-3671
mailto:enq@sclerodermavictoria.com.au

North East Valley Division General Practice, Victoria, Australia, Disclaimer
Level 1, Pathology Building, Repatriation Campus, A&RMC, Heidelberg West VIC 3081. .. map
Phone: 03 9496 4333, Fax: 03 9496 4349, Email: nevdgp@nevdgp.org.au,
Please note: NEVDGP does not provide an on-line consultation