Systemic Sclerosis

Scleroderma means hard skin. If you have scleroderma, you have areas of hardening of the skin. In one type of scleroderma, called systemic sclerosis, you can also get hardening of some of your internal organs. This stops them working normally. There are many possible symptoms and problems that may develop with systemic sclerosis because the extent of the disease can vary greatly from person to person. People with systemic sclerosis should have regular monitoring of blood pressure, blood and urine tests, and lung function, and should report any unexplained symptoms promptly to a doctor. Systemic sclerosis cannot be cured, but there are various treatments which can help. Newer treatments have improved the outlook for this condition.

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. See separate leaflet called Localised Scleroderma (Morphoea)for more details.
  • 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 main forms of systemic sclerosis:
    • Limited cutaneous systemic sclerosis (lcSSc).
    • Diffuse cutaneous systemic sclerosis (dcSSc).

The rest of this article is only about 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. Normally, our body makes proteins called antibodies to fight infections; for example, when we catch a cold or have a sore throat. These antibodies help to kill the germs causing the infection. In autoimmune diseases the body makes similar antibodies (autoantibodies) that attack its normal cells. 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.

It is not known what triggers the immune system to cause systemic sclerosis. There is probably an inherited tendency to develop it. It may be triggered by certain germs (viruses), drugs and chemicals.

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. This causes scarring and thickening (fibrosis).

What are the symptoms of systemic sclerosis?

There are lots of possible symptoms of systemic sclerosis. It will vary which ones are present between different people.

Raynaud’s phenomenon
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 most people who have Raynaud’s will not get systemic sclerosis. See separate leaflet called Raynaud’s Phenomenon for details.

Other skin symptoms

  • Patches of hard or thickened skin. In limited cutaneous systemic sclerosis (lcSSc) this affects the face, forearms and lower legs up to the knee. It tends to start and progress slowly. In diffuse cutaneous systemic sclerosis (dcSSc) skin changes also can involve the upper arms, thighs or trunk. This usually comes on quickly, over a few months, but tends to settle and improve after 3-5 years. If this affects your mouth it can be difficult to open it widely.
  • Swelling of fingers and toes – a common early sign. Fingers may look sausage-like; hand movement may be painful or difficult.
  • Ulcers occurring on fingertips.
  • Chalky hard swellings (called calcinosis) forming in the skin.
  • Dry or itchy skin, with less hair growth.

General symptoms

  • Feeling tired.
  • Weight loss.

Muscle and joint symptoms

  • Muscle pains.
  • Joint pain and swelling
  • Difficulty in moving joints because of the tightness of the skin.

Gut symptoms

  • Symptoms in the gullet (oesophagus), such as heartburn (acid reflux). Also, the muscles in the oesophagus may work less well, causing difficulty in swallowing lumpy foods.
  • Feeling full after meals because the stomach does not empty properly.
  • Bloating of the tummy.
  • Diarrhoea or constipation.

Lung symptoms

  • Scarring of the lung tissue, called interstitial fibrosis. This can give you a cough or make you feel breathless as the lungs can’t work as well as usual.
  • High blood pressure in the arteries of the lungs, called pulmonary arterial hypertension. This can make you feel faint, dizzy or breathless, and can be very serious.

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 tight (contracted), or may develop ulcers or nodules.
  • Problems with teeth if there is difficulty opening the mouth enough to brush them properly.
  • Reduced saliva production can cause dryness of the mouth.
  • Bleeding from the gut.
  • Blockage (obstruction) of the bowels.
  • Incontinence of the bowels.
  • Erection problems (impotence)in men.
  • Heart complications. Several different problems can occur if the muscle of the heart is affected by scar tissue.
  • The thyroid gland can become underactive.
  • Thinning of the bones (osteoporosis).
  • 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:

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