What is Systemic Sclerosis?
Systemic Sclerosis (SSc) (also known as scleroderma) is a long-term condition that causes thickening of the skin, but can also affect internal organs, too. It is an autoimmune condition, meaning that the immune system, which normally works to defend the body against infection and illness, starts to produce factors that damage healthy tissues.
Systemic sclerosis affects the body’s connective tissues, which lies under the surface of the skin and in and around the internal organs and blood vessels. Scleroderma leads to an excess of a protein called collagen in the connective tissues. Collagen is essential to hold tissues together; but too much can cause the body’s tissues to become stiff and thick.
It is divided into 2 main sub-conditions:
- Limited cutaneous systemic sclerosis (lcSSc)
- Involves skin from the elbows and knees to hands and feet
- Milder form with slower progression of skin symptoms and organ involvement
- Diffuse cutaneous systemic sclerosis (dcSSc)
- Involves all skin
- More severe form with faster progression of skin and organ involvement
Causes of Systemic Sclerosis
Systemic sclerosis is a rare condition, with around 12,000 people in the UK having it. Females are 3 to 4 times more likely to develop scleroderma than males and the condition usually starts between the ages of 25-55 years.
The exact reason remains unknown, but we believe the immune system is to blame because it is associated with an excess of a protein called an autoantibody that is made by the immune system. These antibodies target the body’s healthy tissues.
It is thought that Systemic sclerosis is possibly triggered by environmental factors in those that have a predisposition due to genetic risk. Therefore having a family member with the condition can increase your risk.
As such other autoimmune diseases can be present with SSc, the most common being thyroid related or Sjögren’s syndrome.
Symptoms of Systemic Sclerosis
Systemic sclerosis can cause a variety of symptoms throughout the body, which differ between individuals.
The most common symptoms are:
- Raynaud’s Phenomenon
- This is often the first symptom.
- In severe cases it can lead to ulcers and gangrene.
- Skin changes
- Initially, the skin is tight, swollen or puffy. The skin hardens and thickens, with loss of normal skin creases.
- In later stages the fingers are more fixed in a flexed (bent) position.
- Stiffening of facial skin, making it difficult to open the mouth wide.
- Small red blood spots that blanch when pressed.
- This causes white, chalky lumps under the skin, particularly on the fingertips
- Joint or muscle pain/stiffness
- Inflammation in the joints can lead to pain, stiffness, swelling and tenderness.
- Sometimes, muscle weakness occurs.
- Joints can tighten into a bent (flexed) position because of thickening of the skin and surrounding tissues of the joints.
- Digestive problems
- Oesophageal dysfunction
- Difficulty swallowing with food feeling like it is sticking in the gullet
- Heartburn due to acid leaking upwards from the stomach
- Abdominal bloating, diarrhoea or constipation
- Lung problems
- Scarring (fibrosis) of the lungs. This can cause shortness of breath, and/or a dry cough.
- Kidney problems
- These cause high blood pressure. This can come on quite quickly and will need urgent treatment by a specialist. In addition high doses of steroids can bring on kidney problems and should be avoided.
- Heart problems
- Pulmonary Hypertension
- Increased blood pressure in the vessels of the lungs. This is due to narrowing of the blood vessels causing a strain on the heart.
- It can result in heart failure.
How do we diagnose Systemic Sclerosis?
There is no single diagnostic test for scleroderma. Often, the key factor in making the diagnosis is the characteristic thickening of the skin, but other tests can be helpful, too.
- Examination: your doctor will examine the skin, joints and palpate or listen to internal organs including the lungs and heart.
Tests may include:
- Blood tests
- Full blood counts
- Liver and kidney functions
- Inflammatory markers- ESR and CRP
- Specific antibodies- anti-centromere antibodies, anti-Scl-70 antibodies, anti polymerase III
- X-rays and CT scans to look at joints and lungs
- Lung function tests
- Heart scan- echocardiogram, ECG
- Endoscopy tests to look at the oesophagus
- Nailfold capillaroscopy- looks at the blood vessels at the nail edge. This is not currently carried out in Edinburgh.
There is currently no cure for scleroderma. The aims of available treatments are to help control symptoms and treat complications.
- Raynaud’s phenomenon treatment can be found on the corresponding page
- Heartburn and swallowing difficulties may be treated with:
- Small multiple meals, raising the bed head, avoiding certain foods.
- Drugs to lower acid production e.g. omeprazole, a proton pump inhibitor or ranitidine.
- Blood pressure control
- Skin changes
- Calcinosis is usually left untreated, but may have to be surgically removed if the lumps become too big or painful
- Sometimes responds to UVA1 phototherapy.
- Telangiectasia may not require any treatment but can be distressing. Laser treatment may help in some cases.
- If skin involvement is diffuse (above elbows and knees) Mycophenolate Mofetil can be tried.
- Joint pain
- Painkillers including NSAIDs are used.
- Some SSc patients have arthritis that needs treatment with DMARD medicines similar to those used to treat SLE and Rheumatoid Arthritis.
- Heart and lung complications
- Steroid tablets and injections are usually avoided when there is lung involvement in SSc
- Immunosuppressive drugs such as DMARDs and biologic therapies.
- Specific drugs for pulmonary hypertension
- Bone marrow transplantation can be considered for the most severely affected patients
Maintaining a healthy lifestyle is recommended, details on how to achieve this can be found here.
In order to monitor the disease clinic reviews are arranged alongside annual tests (lung function tests and ECHO) to check for early signs of complications. In addition, you should have your blood pressure and urine checked when you come to clinic.
Versus Arthritis: http://www.versusarthritis.org
Scleroderma and Raynaud’s UK: http://www.sruk.co.uk