What is scleroderma?

Scleroderma is a rare, chronic disease that affects the immune system, blood vessels, and connective tissues. In the UK, there are approximately 19,000 people diagnosed with scleroderma and worldwide, there are thought to be 2.5 million people. It usually appears between the ages of 25 to 55, but it can happen to anyone at any age, including children.

Scleroderma is an autoimmune disease in which the immune system attacks healthy tissue in the body. A key symptom of scleroderma is the hardening of the skin, due to excess collagen, which can result in joint pain and stiffness, swollen hands and feet, and Raynaud’s syndrome.

There are different types of scleroderma:

Localised scleroderma, which affects only the skin, is the milder form of scleroderma. Depending on the type of localised scleroderma, the skin will be affected in different ways.

• Morphoea – localised patches of hardened skin that can appear smooth and shiny. These are not painful, but they can sometimes be itchy.
• Linear – the area of affected skin is in a line, often down an arm or a leg. The affected skin can appear shiny and discoloured and can be tight and uncomfortable. In children, this must be carefully monitored as it can cause growth problems.

Systemic sclerosis, which affects the internal organs as well as the skin. This mostly affects women, developing between the ages of 30 and 50 years of age. It rarely affects children. There are two main types of systemic sclerosis:

• Limited cutaneous systemic sclerosis – milder in form, it affects the skin on the hands, lower arms, feet, lower legs and the face. In some cases, it can also progress to affect the lungs and digestive system as well. Often this type starts with Raynaud’s syndrome and progresses gradually.
• Diffuse systemic sclerosis – this can affect the whole body and can cause serious complications if the heart, lungs and kidneys are involved.

Prognosis

Scleroderma usually affects the skin. However, it can also affect the internal organs, such as the brain and heart. In such cases, it can become quite a serious illness with the possibility of difficult complications.

In general, it is a condition that considerably reduces the quality of life. However, there are many different therapies and lifestyle changes that help reduce scleroderma’s impact on the patient’s life. Consulting with a specialist in scleroderma is key to getting the right treatment plan and advice.

What are the symptoms of scleroderma? 

The symptoms of scleroderma depend on the type diagnosed. However, the following are most common:

• Hardened patches of skin
• Raynaud’s syndrome
• Heartburn
• Dysphagia (difficulty swallowing)
• Weight loss
• Fatigue
• Joint pain and stiffness

Complications that can result from certain types of scleroderma include:

• High blood pressure (hypertension)
• Shortness of breath
• Heart rhythm abnormalities
• Pulmonary hypertension
• Kidney problems

Psychological symptoms should also be highlighted as living with a chronic and disabling disease affects a person's work and social life, and therefore it is not uncommon for those with scleroderma to also be affected by depression and anxiety.

How is scleroderma diagnosed?

Being diagnosed with scleroderma can take a while due to there being so many different types and presentations of the disease. If a patient presents to their GP with signs of suspected scleroderma, which could be surmised from a physical examination, then further tests should be carried out.

Such tests include an antinuclear antibodies (ANA) blood test, which checks for overactivity in the patient’s immune system. If this test comes back positive, then usually a small biopsy of affected skin will be taken and examined in a laboratory.

Other tests that might be recommended include a CT scan of the lungs, an echocardiogram of the heart, a pulmonary function test, or an X-ray. These tests can check if the tissues of the internal organs have any changes that could be attributed to scleroderma. 

What are the causes of scleroderma?

The cause of scleroderma is unknown. However, some current studies indicate a multifactorial origin, where genetic and environmental factors have an influence. Scleroderma is an autoimmune disease, which is why the immune system reacts against itself and becomes overactive. In turn, this results in cells producing too much collagen, resulting in scarring and fibrosis (i.e. the thickening and hardening of the skin).

There is some evidence to suggest that being infected with viruses such as the Epstein-Barr virus can lead to a higher chance of scleroderma. 

Can scleroderma be prevented?

Scleroderma cannot be prevented. However, early diagnosis and treatment can help to slow the progression of disease symptoms.

How is scleroderma treated?

There is no cure for scleroderma, but in recent years, many therapies have been shown to be effective in relieving certain symptoms. However, each symptom requires specific monitoring and treatment.

The mainstays of scleroderma treatment include:

• Steroid medications to improve joint and muscle problems
• Medications to improve blood circulation
• Medications to reduce blood pressure
• Medications to reduce immune system activity
• Topical creams to apply to affected parts of skin

It is also important for scleroderma patients to have frequent blood pressure tests and health check-ups to ensure internal organs are closely monitored for any complications.

In addition to this, there are a number of measures that patients must take in their day-to-day:

• Taking care of the skin, moisturising skin daily and protecting it from the sun
• Avoiding the cold and using gloves if affected by Raynaud’s
• Avoiding stress
• No smoking
• Controlling high blood pressure
• Having regular physiotherapy

Which specialists treat scleroderma?

Generally, rheumatologists will treat and monitor scleroderma.