Systemic sclerosis, also known as scleroderma, is a rare autoimmune connective tissue disease in which the immune system drives excessive production of collagen, leading to thickening and hardening of the skin and, in many cases, internal organs. It also causes abnormalities of the small blood vessels.
The condition often begins with Raynaud's phenomenon, where the fingers and toes change colour in response to cold or stress, sometimes years before other features appear. It is broadly divided into limited cutaneous and diffuse cutaneous systemic sclerosis, depending on the extent of skin involvement.
Without appropriate assessment and management, systemic sclerosis can lead to progressive skin tightening, digital ulceration and serious internal complications, including pulmonary fibrosis, pulmonary hypertension and kidney involvement.
What is systemic sclerosis?
Systemic sclerosis is an autoimmune condition in which overactive fibroblasts produce excess collagen, causing fibrosis of the skin and internal organs, alongside damage to small blood vessels and dysregulation of the immune system.
In limited cutaneous systemic sclerosis, skin thickening is typically confined to the fingers, hands and face, and the condition tends to progress slowly; this pattern is sometimes referred to by the acronym CREST. In diffuse cutaneous systemic sclerosis, skin involvement extends more widely and progresses more rapidly, with a higher likelihood of early internal organ involvement.
Systemic sclerosis is distinct from localised scleroderma (morphea), which affects only the skin and does not involve internal organs.
What are the symptoms of systemic sclerosis?
Raynaud's phenomenon is usually the earliest symptom, but systemic sclerosis can affect the skin, joints and multiple internal organs as it progresses.
Signs and symptoms of systemic sclerosis may include:
- Raynaud's phenomenon, with fingers or toes turning white, then blue, then red in the cold or with stress
- Thickening and tightening of the skin, particularly of the fingers, hands and face
- Puffy or swollen fingers, often an early feature
- Calcinosis, with firm deposits of calcium forming under the skin
- Telangiectasia, or small visible dilated blood vessels on the skin
- Digital ulcers on the fingertips
- Joint pain and stiffness
- Heartburn, reflux or difficulty swallowing due to oesophageal involvement
- Shortness of breath, which may indicate pulmonary fibrosis or pulmonary hypertension
- Persistent fatigue
When to Seek Medical Advice?
You should seek specialist assessment if you have Raynaud's phenomenon alongside skin changes, puffy or swollen fingers, new digital ulcers, or unexplained shortness of breath or reflux.
Early assessment is particularly important with systemic sclerosis, as serious complications such as pulmonary hypertension and kidney involvement can develop with few early symptoms, and regular screening allows these to be identified and treated before they become advanced.
What are the causes of systemic sclerosis?
Systemic sclerosis is an autoimmune condition, and its exact cause is not fully understood. It is thought to arise from a combination of genetic susceptibility, immune dysregulation and environmental triggers that lead to blood vessel damage and excess collagen production.
Recognised risk factors for systemic sclerosis include:
- Female sex, particularly between the ages of 30 and 50
- A family history of systemic sclerosis or other autoimmune disease
- Certain genetic and ethnic backgrounds
- Occupational exposure to silica dust or certain organic solvents
- The presence of specific autoantibodies, which are also linked to particular patterns of organ involvement
How systemic sclerosis is diagnosed?
Diagnosis is based on a combination of clinical assessment, blood tests and screening investigations, as there is no single test that confirms systemic sclerosis or its degree of organ involvement on its own.
Dr Nuttall will begin with a detailed review of your symptoms, including the pattern and duration of Raynaud's phenomenon, skin changes and any breathlessness or reflux, together with a physical examination of the skin and blood vessels.
Investigations for systemic sclerosis may include:
- Blood tests for antinuclear antibodies (ANA), anti-centromere antibody and anti-Scl-70 (topoisomerase) antibody, which help confirm the diagnosis and predict the likely pattern of disease
- Nailfold capillaroscopy, to examine the small blood vessels at the base of the fingernails
- Pulmonary function tests and high-resolution CT of the chest, to screen for interstitial lung disease
- Echocardiography, to screen for pulmonary hypertension and assess heart function
- Regular blood pressure and kidney function monitoring, given the risk of scleroderma renal crisis
- Oesophageal studies, where swallowing symptoms are present
How to treat systemic sclerosis?
There is currently no cure for systemic sclerosis, so treatment is aimed at controlling symptoms, slowing progression and preventing or managing organ complications. The approach is tailored to the pattern of skin and organ involvement.
Treatment options may include:
- Calcium channel blockers and measures to keep the hands and feet warm, to manage Raynaud's phenomenon
- Immunosuppressants such as methotrexate or mycophenolate mofetil, for progressive skin thickening
- Mycophenolate mofetil, cyclophosphamide, nintedanib or rituximab for interstitial lung disease
- Specific vasodilator therapies, including endothelin receptor antagonists and PDE5 inhibitors, for pulmonary hypertension, managed with specialist input
- ACE inhibitors, used urgently if scleroderma renal crisis develops
- Proton pump inhibitors and dietary modification for reflux and oesophageal symptoms
- Vasodilator treatment and specialist wound care for digital ulcers
- Physiotherapy and occupational therapy to maintain hand function and mobility
- Smoking cessation, which is particularly important given the vascular nature of the condition
Given the range of organs that systemic sclerosis can affect, care is usually delivered by a multidisciplinary team, and Dr Nuttall will coordinate assessment and treatment to protect organ function and support your long-term health.
