Systemic sclerosis (scleroderma)

Systemic sclerosis is an autoimmune connective tissue disease. The immune system mistakenly targets the body's own tissues, which inflames and damages the tiny blood vessels and triggers cells called fibroblasts to lay down too much collagen. This combination of vascular injury and scarring (fibrosis) explains why the skin tightens and why the circulation and internal organs can be affected.

Why this happens is not fully understood. There is thought to be a genetic susceptibility that, in some people, is set off by an environmental trigger, but it is not inherited in a simple way and is not contagious. It is most often diagnosed in adults, particularly women, and frequently begins with Raynaud's phenomenon. It belongs to the wider family of connective tissue diseases.

Systemic sclerosis can affect several systems. Features may include:

• Tightening or thickening of the skin, often beginning in the fingers and hands
• Colour changes in the fingers in the cold (Raynaud's phenomenon), which is very common
• Joint pain and stiffness
• Digestive symptoms such as heartburn or difficulty swallowing
• In some people, effects on the lungs (interstitial lung disease) or other organs

Diagnosis brings together your symptoms, a careful examination of the skin and circulation, blood tests for particular antibodies, and assessments of any organ involvement. Because Raynaud's and early skin changes can be subtle, specialist assessment helps reach an accurate picture and judge whether monitoring of other systems is needed.

Where the joints are involved, ultrasound can help assess inflammation. Dr Borukhson uses point-of-care ultrasound during the consultation. You can read more on the ultrasound clinic page.

There is no single treatment, as care is directed at the specific features a person has: protecting the circulation, managing skin and joint symptoms, addressing digestive issues, and monitoring and treating any organ involvement. The approach is individual and is reviewed regularly, with input from other specialists where appropriate.

Regular monitoring is an important part of this care. One example is screening for pulmonary hypertension, raised pressure in the blood vessels of the lungs, which can develop in some people with systemic sclerosis. Because effective treatments are available, early detection is vital: annual testing should be offered routinely and includes tests such as an ultrasound scan of the heart (an echocardiogram) and breathing tests (lung function tests), so that any changes are picked up early.

Systemic sclerosis can affect the skin, circulation and internal organs, so care often benefits from the involvement of more than one specialty. Dr Borukhson practises within a world-renowned tertiary centre, with ready access to consultant colleagues across the other specialties that may be involved in caring for this condition. Where appropriate, she can involve those specialists directly, and bring particularly complex cases to a multidisciplinary team meeting (MDT) with minimal delay. This means that, when more than one area of expertise is needed, your care can be joined up and decisions reached promptly.

Day-to-day care works alongside your treatment plan and can make a real difference to comfort:

• Keep warm to protect the circulation, wearing gloves, layers and hand warmers, and stopping smoking, which constricts small blood vessels
• Look after the skin with regular moisturising and gentle hand and finger exercises to maintain suppleness and movement
• For digestive symptoms, smaller frequent meals, staying upright after eating and raising the head of the bed often help
• Pace activity and rest, and keep up gentle exercise as able

Outlook varies considerably from person to person, and many people remain well for years. Keeping up your regular follow-up and screening matters, as it lets care be adjusted as things change. Sharing how you are coping, including the emotional side, is part of good care.

Most changes can be managed at a routine review, but some warrant prompter attention. Arrange an urgent assessment, or seek same-day medical help, if you notice:

• New or worsening breathlessness, a persistent dry cough or chest pain
• A fingertip ulcer or sore that is not healing, or a finger that becomes very painful, cold, dusky or numb
• Swollen ankles, palpitations or fainting, which can point to heart or lung involvement
• A sudden rise in blood pressure, a severe headache or a noticeable fall in how much urine you pass, which can signal a kidney problem and needs same-day attention

Rapidly spreading skin tightening, difficulty swallowing or unexplained weight loss should prompt a routine but timely review. If you are ever seriously unwell, do not wait for your next appointment.

Systemic sclerosis benefits from early recognition and ongoing, coordinated care, particularly to monitor for any organ involvement. If you have new Raynaud's alongside skin tightening or other symptoms, a specialist review is worthwhile.

How is systemic sclerosis diagnosed?

There is no single test for systemic sclerosis, so the diagnosis brings together your symptoms, a careful examination of the skin and circulation, and blood tests for particular antibodies. Assessments of the internal organs are added where needed, because the condition can affect more than the skin. As early Raynaud's and skin changes can be subtle, a specialist review helps reach an accurate picture and decide what monitoring is sensible.

Is systemic sclerosis curable, and will it go away?

Systemic sclerosis is a long-term condition rather than one that is cured or simply goes away, but it varies a great deal from person to person and many people are well supported with the right care. Treatment is directed at the specific features you have, such as protecting the circulation and easing skin, joint and digestive symptoms. The plan is reviewed regularly so it can be adjusted as things change over time.

Is systemic sclerosis serious, and how is my health monitored?

For many people the condition is manageable, though in some it can affect internal organs such as the lungs, which is why ongoing monitoring matters. One example is annual screening for raised pressure in the blood vessels of the lungs, which usually includes an ultrasound scan of the heart and breathing tests so that any change is picked up early. Because effective treatments exist, finding any organ involvement early gives the best chance of dealing with it well.

Why does systemic sclerosis benefit from specialist care?

Because systemic sclerosis can involve the skin, circulation and internal organs at the same time, care often draws on more than one area of expertise and is best coordinated by a specialist. Dr Borukhson works within a major tertiary centre, so she can involve consultant colleagues in other specialties and bring complex cases to a team discussion with little delay. Where the joints are affected, she also uses point-of-care ultrasound during the consultation to assess inflammation.