Systemic sclerosis (scleroderma)

What is systemic sclerosis?

The word scleroderma means hard skin (sclero = hard, derma = skin), and this is the most visible symptom of systemic sclerosis. For this reason, the disease is sometimes just called scleroderma and many patients' organisations use that name.

However, it's very important to understand that this disease can affect other parts of the body in addition to the skin. Because it's not just the skin involved, many people prefer the name systemic sclerosis.

The word 'systemic' refers to a disease that can affect different organs or systems of the body. In these web pages we'll use the name systemic sclerosis throughout.

Systemic sclerosis can affect the joints, muscles, blood vessels and digestive system. It affects the lungs of about half the people with the condition, although this doesn't always cause symptoms. It can also affect the kidneys, but this is rare.

Systemic sclerosis is an autoimmune disease, which means the immune system attacks the body's own tissues. It's one of a number of conditions called connective tissue diseases.

Systemic sclerosis is rare, but women are 3–4 times more likely than men to develop it. It usually starts between the ages of 25–55 and only occasionally begins in children or in older people.

It's important not to confuse systemic sclerosis with a completely different disease called localised scleroderma (also called morphoea). In this disease there is thickening of the skin and soft tissues in a localised area of the body only, but other organs aren't involved.

Morphoea doesn't develop into systemic sclerosis, and these web pages aren't intended for people with morphoea.

Symptoms

Systemic sclerosis can cause a range of symptoms affecting many different parts of your body:

  • increased sensitivity to the cold
  • changes in the skin
  • pain or stiffness in the joints or muscles
  • digestive problems.

Sensitivity to the cold (Raynaud's phenomenon)

Most people with systemic sclerosis develop an unusual sensitivity to the cold, known as Raynaud's phenomenon. Your fingers or toes turn white then blue in the cold. Just walking into a cold room or reaching into the fridge can make this happen. The colour returns to normal as your hands or feet warm up.

Raynaud's phenomenon is caused by your blood vessels narrowing (constriction), which reduces the blood supply to your fingers or toes. Stressful situations can also cause the blood supply in your hands to reduce and bring on a Raynaud's attack.

It's possible to have Raynaud's without having systemic sclerosis, but most people with systemic sclerosis will have symptoms of Raynaud's at some time during their illness, and it's often one of the first symptoms to appear. It can sometimes appear years before the onset of systemic sclerosis.

Changes in the skin

The most common changes include:

  • the skin on your hands, arms and face thickening and hardening – about 95% of people with systemic sclerosis will notice these changes
  • your hands and/or feet swelling, especially in the morning
  • shiny skin, without its usual creases
  • the skin on your face stiffening, making it difficult to open your mouth wide, and sometimes your lips becoming thinner
  • small red blood spots (called telangiectasia) on your face, hands and arms.

Less frequently, or later on in the condition, symptoms can include:

  • thinning of the pads at your finger tips and the soles of your feet
  • peeling, cracking or open sores (ulcers) in your skin and flesh over your fingertips, caused by poor blood supply
  • small, white chalky lumps under your skin (calcinosis), caused by calcium-containing deposits, often on your fingertips.

Digestive problems

Systemic sclerosis can affect the connective tissue of your internal organs, for example your digestive system, resulting in:

  • difficulty swallowing, caused by the weakening of the muscles in your gullet (oesophagus)
  • heartburn/reflux, caused by acid leaking upwards from your stomach into the lower part of your oesophagus.

Most people with systemic sclerosis have some problems with swallowing or heartburn. Less often, other parts of your bowel may be affected, leading to symptoms such as:

  • abdominal bloating
  • diarrhoea
  • constipation.

Pain or stiffness in the joints or muscles

Systemic sclerosis can cause the tissues around your joints to stiffen, which makes the joints contract. It can also cause inflammation, which may lead to:

  • pain
  • stiffness
  • swelling
  • tenderness

Muscle weakness (myositis) is also sometimes a symptom of systemic sclerosis. About 1 person in 5 with systemic sclerosis will also have symptoms of a second rheumatic condition such as rheumatoid arthritis, lupus or Sjögren’s syndrome.

People who've had systemic sclerosis for a long time may find that their joints can tighten into a bent position because of the tightening of the skin and tissues surrounding the joints. These are called contractures and can occur in your fingers or elsewhere in your body.

Causes

Systemic sclerosis develops because of changes that occur in the body's connective tissues. These tissues lie under the surface of the skin and also in and around the body's internal organs and blood vessels.

Systemic sclerosis leads to too much fibrous connective tissue, which is similar to scars that form after an injury. Scar tissue contains a protein called collagen, which is essential to help hold the body together. However, having too much collagen can cause the body's tissues to stiffen and thicken.

We don't yet know exactly why some people produce too much scar-like connective tissue. The immune system – which normally fights off infections – appears to be overactive and attacks healthy body tissues instead. This is thought to be due to a mix of genetic and environmental factors.

Although the genes we inherit from our parents can affect our risk of developing systemic sclerosis, the condition isn't passed directly from one generation to another. Systemic sclerosis isn't contagious so it can't be caught from somebody else.

How will systemic sclerosis affect me?

Systemic sclerosis is different for everyone, so it’s hard to say how it might affect you.

Most people find that systemic sclerosis affects just a few parts of their body and comes on gradually. It may slowly get worse but usually settles down to become stable after a few years. Sometimes systemic sclerosis may progress more quickly, but other people find that it almost disappears after several years.

For some people the skin symptoms are the most troublesome, while others are affected more by poor circulation or digestive problems. Some people find their symptoms improve in summer but become worse in the winter.

A small number of people have more serious complications, for example:

  • scarring (fibrosis) of their lungs, causing shortness of breath and/or a dry cough
  • narrowing of the blood vessels of their lungs, leading to high blood pressure in their lungs (pulmonary hypertension), which may in turn strain their heart
  • kidney problems resulting in high blood pressure.

These complications are fairly rare, but we recommend regular check-ups, preferably yearly, so that any problems can be identified at an early stage.

Because your body has the ability to break down or repair extra scar tissue, you may notice some improvement in scarring – both in your skin and in your other organs – once the condition becomes less active.

Diagnosis

There's no single test for systemic sclerosis, and the characteristic thickening of the skin is often the key factor in making the diagnosis. However, tests can be helpful in finding out whether other parts of your body are affected.

What tests are there?

Tests could include:

  • blood tests
  • x-rays and computerised tomography (CT) scans
  • breathing tests
  • a heart scan (echocardiogram or ECG)
  • stomach tests, for example an endoscopy
  • a skin biopsy, where a small piece of skin is removed and examined under a microscope.

You may also have a capillaroscopy, which looks at the small blood vessels (capillaries) under a microscope, or thermography, which takes images of the heat coming from your body using an infrared camera, although they're often only performed at specialist centres.

After you've been diagnosed, you might need to see your doctor regularly to monitor your condition. Most people have yearly tests to check for early signs of the more serious complications, such as effects on the heart and lungs.

Treatments

At the moment there's no cure for systemic sclerosis, although medications can help to control your symptoms and treat any complications. There's also a lot you can do for yourself, including exercise and skin care, which will help you manage your condition.

Treatments for Raynaud's phenomenon

Drugs can help with the symptoms of Raynaud's phenomenon by widening the blood vessels, improving circulation to your hands and feet. There are quite a few drugs available, including tablets such as nifedipine, and they’re sometimes more effective if more than one is used at the same time.

In more severe cases of Raynaud's, particularly if you have painful ulcers that won't heal, you may be given drugs such as iloprost into a vein through a drip (this is called an infusion). You'll usually be admitted to hospital for this treatment.

Drugs that relax your blood vessels and increase blood flow to your fingers and toes also have the same effect on blood vessels elsewhere in your body. This can cause side-effects such as:

  • flushing
  • headaches
  • swollen ankles.

Treatments for heartburn and swallowing difficulties

To prevent heartburn (reflux) and swallowing difficulties, your doctor may recommend you take antacids or a drug to lower acid production in your stomach. These are usually very effective, although you may need to continue treatment for a much longer period (months or years) than is usual with simple heartburn. You may also be prescribed a drug called a proton pump inhibitor (PPI), which will help to protect your stomach.

Treatments for other gastrointestinal problems

You may need to see a gastroenterologist if you have:

  • spells of constipation and diarrhoea
  • abdominal swelling
  • increased wind and discomfort.

Some people may also experience anal incontinence, meaning that they can't control their bowel motions properly so that small amounts of stool slip out and can soil their clothes. This can be uncomfortable or embarrassing, and people may not realise that it's anything to do with systemic sclerosis.

If this happens to you, you should also raise it with your doctor and ask for a referral to a gastroenterologist. Sometimes additional bacteria develop in the bowel, and this can be helped by medications such as antibiotics. However, it's important to have symptoms like diarrhoea and incontinence looked into to make sure that they don't have another cause.

Treatments for inflamed joints

Painkillers and non-steroidal anti-inflammatory drugs (NSAIDs) should help to relieve joint pain and inflammation. You can buy mild forms over the counter at pharmacies and supermarkets (for example paracetamol), but your doctor may prescribe stronger types if needed.

Like all drugs, NSAIDs can sometimes have side-effects, but your doctor will take precautions to reduce the risk of these – for example, by prescribing the lowest effective dose for the shortest possible period of time.

NSAIDs can cause digestive problems, including:

  • stomach upsets
  • indigestion
  • damage to the lining of the stomach.

Therefore, in most cases NSAIDs will be prescribed along with a PPI. Even with a PPI, you'll probably only be given NSAIDs for short periods because of the risk of making any existing gastrointestinal problems worse.

NSAIDs also carry an increased risk of heart attack or stroke. Although the increased risk is small, your doctor will be cautious about prescribing NSAIDs if there are other factors that may increase your overall risk – for example:

  • smoking
  • circulation problems
  • high blood pressure
  • high cholesterol
  • diabetes.

Treatments for high blood pressure and kidney complications

High blood pressure (hypertension) sometimes occurs in systemic sclerosis and in severe cases can lead to kidney damage and strain on your heart. This is a serious complication known as a systemic sclerosis renal crisis. It can be treated, or often prevented, with drugs that help to control the blood pressure, especially ACE inhibitors.

Treatments for lung and heart complications

Inflammation in the lungs can be treated with steroid tablets or disease-modifying anti-rheumatic drugs (DMARDs).

High blood pressure in the lungs (pulmonary hypertension) is a rare complication of systemic sclerosis, but you'll have regular tests to check how well your lungs and heart are working, which will pick up any problems. If necessary, pulmonary hypertension can be treated with specific drugs (including bosentan, ambrisentan, sildenafil or iloprost) that improve symptoms such as breathlessness.

Other drug treatments

Other drugs that may be used include:

  • steroid tablets
  • immunosuppressive drugs
  • drugs used to treat blood pressure and cholesterol.

Steroid tablets

Steroid tablets are synthetic forms of a hormone (cortisone) that occurs naturally in the body. They may be used either in the early stages of the condition when the skin is just starting to look puffy or later on if the muscles or lungs are affected. They're usually given in low doses because high doses can raise blood pressure and increase the risk of kidney problems.

Immunosuppressive drugs

Immunosuppressive drugs target the immune system, and they may be used in more severe cases of systemic sclerosis, especially where the skin or lung disease is more extensive.

Treatments for Raynaud's phenomenon

Drugs can help with the symptoms of Raynaud's phenomenon by widening the blood vessels, improving circulation to your hands and feet. There are quite a few drugs available, including tablets such as nifedipine, and they’re sometimes more effective if more than one is used at the same time.

In more severe cases of Raynaud's, particularly if you have painful ulcers that won't heal, you may be given drugs such as iloprost into a vein through a drip (this is called an infusion). You'll usually be admitted to hospital for this treatment.

Drugs that relax your blood vessels and increase blood flow to your fingers and toes also have the same effect on blood vessels elsewhere in your body. This can cause side-effects such as:

  • flushing
  • headaches
  • swollen ankles.

Managing your symptoms

Although some of the symptoms of systemic sclerosis need specific medications, self-help measures like exercise and skin care are important aspects of your treatment.

Exercise

One of the best things you can do to keep on top of systemic sclerosis is to follow a regular exercise programme. This will keep your skin flexible, reduce any tightening in your joints and keep your blood flowing freely.

Gentle exercises will help you to keep your joints moving. Although you may need to rest if your joints become swollen, it's generally helpful to keep moving as much as possible. You should do regular stretching exercises because they should help to reduce joint contractures. Your physiotherapist or a specialist hand therapist will be able to teach you the best exercises to keep your joints mobile and may also suggest using splints to help in managing hand contractures. You might be given special exercises to help keep your face mobile.

Living with systemic sclerosis

Supports, aids and gadgets

A number of gadgets are available that can help if you have trouble with daily activities like dressing or tasks that require good grip strength. If you're in doubt, ask an occupational therapist for advice on how to protect your joints from unnecessary strain.

If you struggle to open childproof medicine containers, ask your pharmacist to put your drugs in containers you can manage.

Some people find it difficult to handle coins when their fingers are sore or swollen. A coin purse that opens out to form a tray for the coins may help with this.

Read more about occupational therapy and arthritis.