What is scleroderma?

The word scleroderma means hard skin. There are two kinds of scleroderma:

• Localised scleroderma (also known as morphoea). This only affects the skin. It causes some areas of the skin to become harder than usual. This type of scleroderma is more common in children.
• Systemic sclerosis. This causes some areas of the skin to become harder than usual, and it may involve one or more of the body's internal organs. There are two forms of systemic sclerosis:
  • Limited cutaneous systemic sclerosis.
  • Diffuse cutaneous systemic sclerosis.

What causes systemic sclerosis?

Systemic sclerosis is an autoimmune disease. This means that the immune system causes damage to some of the body's own cells (instead of just fighting bacteria and viruses, which is what the immune system normally does). In systemic sclerosis, the immune system damages the connective tissue cells, which are found in many parts of the body. (Your connective tissue supports, binds or separates other tissues and organs within your body and can also be a kind of packing tissue in your body.) So, systemic sclerosis is also classed as a connective tissue disease.

We do not know what triggers the immune system to cause systemic sclerosis. There is probably an inherited tendency to develop it and viruses such as cytomegalovirus have been mooted as a cause. Chemicals are sometimes involved such as vinyl chloride, some pesticides, benzene derivatives and silica.

What is known is that cells called fibroblasts are affected by the immune system in some way and make too much of a protein called collagen. The collagen gets deposited in skin, blood vessels and organs, causing fibrosis (scarring and thickening).

Who gets systemic sclerosis?

Systemic sclerosis develops in about 2 people in 100,000 per year. Women are four times more likely to get it than men.

It usually begins between the ages of 25 and 55 years but can affect any age group. It is rare in children.

What are the early symptoms of systemic sclerosis?

The earliest symptom is usually something called Raynaud's phenomenon. This is where there are temporary changes to the skin in response to cold or stress - usually in the fingers, toes and nose. The skin turns pale, blue and then red. It returns to normal when warm or no longer stressed.

Note: if you have Raynaud's phenomenon it does NOT necessarily mean that you will get systemic sclerosis. Raynaud's phenomenon on its own is a common condition, and only about 1 in 100 people who have Raynaud's will get systemic sclerosis. See separate leaflet called Raynaud's Phenomenon for details.

How does systemic sclerosis progress?

This depends on what form of systemic sclerosis it is.

Limited cutaneous systemic sclerosis

This used to be called CREST syndrome. If you have this type of systemic sclerosis you will usually have Raynaud's phenomenon for years before any other symptoms develop.

Other symptoms of systemic sclerosis which may then develop include:

• Patches of hard or thickened skin on the face, feet or forearms.
• Fingers becoming swollen with tight skin.
• Ulcers occurring on fingertips.
• Swellings (called calcinosis) forming in the skin.
• Symptoms in the oesophagus (gullet), such as acid reflux (heartburn). Also, the muscles in the oesophagus (gullet) may work less well, causing difficulty in swallowing lumpy foods.

Diffuse cutaneous systemic sclerosis

In this type, the disease progresses more quickly, so most people will get other symptoms within one year following the start of Raynaud's phenomenon. The symptoms may include:

• Skin changes - swelling or thickening of the skin. This can occur on parts of the fingers, lower arms, lower legs, face or trunk.
• Tiredness.
• Weight loss.
• Muscle pains.
• The muscles in the oesophagus can be affected, causing acid reflux and/or difficulty in swallowing lumpy foods.
• Internal organs may be involved at an earlier stage than with the limited cutaneous type of systemic sclerosis. (This is explained below under Complications.)

With the diffuse cutaneous type of systemic sclerosis, symptoms are usually worst about 1-3 years after the disease first starts. After this, the disease typically goes into a stable phase where it does not progress, and the skin often improves and becomes softer.

How is systemic sclerosis diagnosed?

Systemic sclerosis can be difficult to diagnose as it can develop gradually and can take different forms.

There is no single test or feature which gives a yes/no answer. Instead, the diagnosis is made after looking at the whole person, taking into account their symptoms, physical examination, and blood tests. This may involve seeing a specialist - usually a rheumatologist, who is a doctor specialising in joint and connective tissue diseases.

Tests which can be helpful are:

• Examination of the fingernails, using a skin microscope: this looks at the capillaries (tiny blood vessels) in the nail area, which can show changes linked to systemic sclerosis.
• A skin biopsy (a small sample of the affected skin is examined by microscope).
• Blood can be tested for particular antibodies which are linked to systemic sclerosis. Antibodies are tiny proteins that are part of the immune system.
• X-ray of the hand may show calcinosis (chalk deposits).

Are there any complications of systemic sclerosis?

Systemic sclerosis can cause complications, and may affect almost any organ in the body. This happens because it is a connective tissue disease, and connective tissue is found throughout the body. The condition affects different people in different ways: complications can vary from very mild with no symptoms, to more severe.

The most common complications of systemic sclerosis are:

• Skin may become contracted (tight), or may develop ulcers or nodules.
• Joints and muscles can be affected, if tight skin limits the movement of a joint.
• The gut may be underactive, causing constipation, bloating, or other problems.
• Reduced saliva production can cause dryness of the mouth.
• The thyroid gland can become underactive.
• Lungs may develop pulmonary hypertension (high blood pressure in the lungs) or pulmonary fibrosis (scar tissue in the lungs).
• Blood pressure can become high.
• Kidneys may become less efficient.
• Sometimes, kidney problems get worse quickly and the blood pressure becomes very high. This is called scleroderma renal crisis and accelerated hypertension. It needs urgent treatment. Symptoms are: headaches, blurred vision, seizures, breathlessness, leg and foot swelling, or reduced urine production. If you have any of these symptoms see a doctor immediately.

What is the treatment for systemic sclerosis?

At present, there is no cure for systemic sclerosis. However, much can be done to help. The aims of treatment are:

1. To relieve symptoms.
2. To prevent the condition from progressing, as much as possible.
3. To detect and treat complications early.
4. To minimise any disability.

Treatment aim 1 - to relieve symptoms

• For the skin, moisturisers and stretching exercises help with dry or tight skin.
• Raynaud's symptoms are reduced by medicines such as calcium antagonists, prostacyclin, and extra warmth - for example, by using heated gloves. Newer treatments include nitroglycerine ointment and tablets called sildenafil (Viagra®). In severe cases, an operation on the nerves supplying the blood vessels to the hands (sympathectomy) can be carried out.
• Stomach and gut problems can be relieved by medicines such as omeprazole to reduce acid secretion, domperidone to help with stomach action, and laxatives. If swallowing lumpy foods is difficult then it may help to have lots to drink with meals. Surgery may be required in difficult cases, particularly if partial blockage or bowel incontinence develops.

There are various other treatments which can help, depending on individual symptoms.

Treatment aim 2 - to prevent the condition from progressing, as much as possible

Treatments are used which suppress the body's immune system (because it is the immune system which is overactive in systemic sclerosis). Examples of these treatments are: steroids, methotrexate, penicillamine, cyclophosphamide, azathioprine, infliximab, and stem cell transplantation. The medicines that are used will depend on the individual situation.

You should not smoke - because this is healthier for the blood vessels and lungs.

Treatment aim 3 - to detect and treat complications early

Regular monitoring is needed to check blood pressure, kidney function (with blood and urine tests), and lungs (which may need a scan). These tests may detect changes before any symptoms are noticed - and early detection allows early treatment.

Various treatments are available for different complications. These include:

• Skin: dressings and antibiotics are used for skin ulcers. Surgery may help with tight skin, nodules or ulcers.
• Lungs: new medicines such as bosentan, sildenafil, and prostacyclins have improved the treatment of pulmonary hypertension and pulmonary fibrosis.
• High blood pressure and kidney problems are treated with angiotensin-converting enzyme (ACE) inhibitors/angiotensin receptor blockers, nifedipine, and other blood pressure medicines.
• Thyroid replacement tablets are given for an underactive thyroid gland.
• You may be more susceptible to infections, and so should receive antibiotics promptly for any infective illness such as a chest infection.

Treatment aim 4 - to minimise disability

• If required, physiotherapists can advise on exercises to keep joints mobile and muscles strong.
• If required, occupational therapists can advise on various aids such as splints to support the joints, and help with daily living tasks.
• Regular dental checks are important if you have dry mouth symptoms.
• Patient support groups such as the Raynaud's and Scleroderma Association, or the Scleroderma Society, can provide information and support.
• Patient education/self-management programmes can help people to understand their condition and be more in control of their lives. For example, the Bath Scleroderma Education Programme run by the Royal National Hospital for Rheumatic Diseases in Bath, or the Expert Patient Programmes run by local health organisations.
• You may be entitled to benefits if your daily activities are affected, or if you require extra help.

What about pregnancy with systemic sclerosis?

It is possible to have a baby if you have systemic sclerosis. You should try and plan your pregnancy at a time when the disease is stable. Nevertheless, the pregnancy would be classed as a high-risk pregnancy because there is an increased risk of pregnancy complications compared with women who do not have systemic sclerosis. Specialist care from your rheumatologist and obstetrician is advisable.

If you are planning a pregnancy, it is important to discuss your medication with a doctor BEFORE you start trying for a baby - because some of the medicines used to treat systemic sclerosis are not suitable during pregnancy.

What is the outlook for people with systemic sclerosis?

For most people with systemic sclerosis, the disease is either mild or moderate. For a minority, the disease can be severe or life-threatening. The outlook depends very much on which form of the disease you have, and how it progresses. It is usually possible to make some prediction for each individual; this would need to be done by a specialist.

As a general rule, people with the limited cutaneous type of systemic sclerosis have a milder form of the condition which progresses slowly. People with the diffuse cutaneous type have a faster onset of the condition and its complications, but then it will often stabilise and the skin often improves with time.

Although no cure has been found yet for systemic sclerosis, treatments have advanced in recent years, and the outlook has improved. Research in this area is continuing.

Further help and information

Raynaud's & Scleroderma Association

112 Crewe Road, Alsager, Cheshire, ST7 2JA
Telephone: 01270 872776 Freephone 0800 917 2494 Web: www.raynauds.org.uk

Scleroderma Society

PO Box 581, Chichester PO19 9EW
Tel: 0800 311 2756 Web: www.sclerodermasociety.co.uk

References

• Jimenez S; Scleroderma, eMedicine, Jan 2010
• Isenberg DA, Black C; ABC of rheumatology. Raynaud's phenomenon, scleroderma, and overlap syndromes. BMJ. 1995 Mar 25;310(6982):795-8.
• Black, Carol; Scleroderma in 2005: Have we made progress?; Talk presented at Scleroderma Society Annual Conference
• No authors listed; How can treatment of systemic sclerosis be improved?. By setting up a national database of all cases and entering patients into trials. UK Scleroderma Study Group. BMJ. 1998 Aug 1;317(7154):294-5.
• Miniati I, Guiducci S, Mecacci F, et al; Pregnancy in systemic sclerosis. Rheumatology (Oxford). 2008 Jun;47 Suppl 3:iii16-8. [abstract]