Systemic sclerosis is an autoimmune connective tissue disorder. Other similar diseases include SLE, RA, Sjogren’s syndrome and mixed connective tissue disease. There is a lot of overlap in the symptoms of these diseases. Many will require immunosuppressive therapy.
- You should always consider connective tissue diseases in ill patients with multisystem involvement, when there is no infection present.
- Also remember that, even though the common presentations are discussed below, connective tissue disorders can present with strange symptoms, that can be just about anything!
Systemic sclerosis is sometimes referred to as CREST. This is a mnemonic you can use to remember some of the main symptoms of the disorder:
- C – Calcinosis – calcium deposits, usually seen in the fingers
- R – Raynaud’s phenomenon
- E – Esophogeal Dysmotility
- S – Scleodactyly – thickening of the skin
- T – Telangiectasia – red spots on the skin
You might also here systemic sclerosis referred to ‘scleroderma’.
There are two main types of systemic sclerosis:
- Limited cutaneous scleroderma – aka scleroderma – in this variation, the signs are mostly confined to the hands, arms and face – i.e. mostly to the skin. In 80% there is also pulmonary hypertension.
o 5 year survival is >90%
o 10 year survival is >75%
o Generally only those with pulmonary involvement with have life threatening illness
o Usually skin changes on the upper limb are distal to the elbow.
- Diffuse cutaneous scleroderma – aka systemic sclerosis – tends to be more rapidly progressing and severe. Affects larger areas of the skin, and there is multi-systemic involvement. Can be life-threatening, e.g. if the heart/lungs/liver/kidneys become involved.
o 5 year survival is 70%
o 10 year survival is 55%
o Skin changes can occur anywhere, and in advanced cases, may cover the whole body!
o Patches typically appear on the trunk
Epidemiology / Aetiology
- 4x as common in women
- Prevalence is about 1 per 1000
- Peak incidence is between 30-50
- Children sometimes affected in localised patches
Pathology
- The disease is the result of vascular damage within the skin and organs.
- Organ damage is usually the result of fibrosis.
- Renal and pulmonary complications are the most life-threatening
- In normal disease progression, there can be some element of disease regression. This might include periods, perhaps a few weeks long, where the patient says their symptoms feel much less severe – although they are usually still apparent.
Clinical features
- Sclerodactyly – thickening of the skin
- Skin pigmentation changes – commonly a loss of pigment around the affected areas, but there may also be patches of hyperpigmentation.
- Calcinosis of the fingertips – calcium deposits at the fingertips. You may see these at little pits near the finger tips (digital pitting), and they are often visible as white dots around the distal phalanges on radiograph.
- Reynaud’s phenomenon – the result of vascular spasms that reduce the blood supply to the fingers, usually when the hands get cold. The phenomenon may also be triggered by emotional stress. There is a classic pattern of colour change – the fingers will go white, then blue, then as they warm up, or the episode passes, they will become red. The red part of the cycle is the result of hyperaemia that occurs after a period of reduced blood flow. The episodes are often painful.
o Sometimes also occurs in the tongue, toes, nose and ears.
o Occurs in 4-30% of all women. Rarer in men
o Can be divided into primary and secondary disease. In primary disease, it is often symmetrical, and will usually not result in any complications (e.g. ulceration, tissue necrosis, gangrene).
o Secondary disease is what we see when it is related to connective tissue disease. This is often asymmetrical, and extremely painful. There may be associated ulceration, tissue necrosis, and gangrene.
§ Smoking is a big risk factor!
o It is important to remember when asking about this in the history that everybody’s fingers will turn white/blue if they are cold for long enough! You need to find out if they think these changes are abnormal, and often there may be a clear horizontal line across the fingers where the colour changes appear.
o It commonly occurs in association with connective tissue disorders, but it can be idiopathic, and occur in isolation, or in association with other disorders, or as the result of medications (e.g. β-blockers). It also occurs in pregnancy.
o Treatment
§ Avoid sudden changes in temperature / low temperature. This might involve wearing gloves in moderate weather
§ Stop smoking
§ Try medications
· Calcium channel blockers
· Angiotensin-II agonsits
· SSRI’s may also be useful
- Oesophageal Complications
- Telangactasia
- Pulmonary complications
- Reduced movements of the fingers/wrists – due to the swelling and skin thickening involved in the disease
General features of connective tissue disease
- Mouth ulcers
- Dry eyes
- Dry mouth
- Hair loss – mostly associated with SLE – but remember there is a lot of overlap! If symptoms of more than one connective tissue disorder are present, we would probably call it mixed connective tissue disease.
- Hand, foot and leg ulcers – particularly when Reynaud’s phenomenon is present.
If you are a bit stuck when taking a history, going through a systems review is likely to yield lots of useful information in a patient with connective tissue disease
Investigations
- Anti-centromere antibodies – associated with limited cutaneous scleroderma. Foud in 70% of cases.
- Anti-Scl-antibodies – associated with Diffuse cutaneous scleroderma. Found in 40% of cases.
Treatment
Organ complications are managed individually. Treatment for the organ involvement has come a long way in the last 20 years, and has dramatically improved survival. However, scleroderma is still one of the least treatable rheumatological conditions.
Specific organ treatments, e.g.
- Renal crisis – ACE inhibitors often used
- Oesophageal involvement – PPI’s widely used
- Pulmonary Hypertension – usually treated with calcium channel blockers. However, in many patients this is not sufficient. Other drugs can be used IV, e.g. prostacyclin.
o In very severe cases, patients may be considered for lung transplant.
- Interstitial lung disease – occurs in many patients, and restrictive lung disease will occur in about 20% of patients, and many of these will die as a result. This may be treated with low dose long term corticosteroid therapy (e.g. 7mg daily of prednisolone), and can also be treated with cyclophosphamide. However, it is often resistant to treatment.
You should also monitor annually, e.g. with:
- ECG
- Spirometry
Immunosuppressive therapy
This may be used in those with more aggressive disease. This may involve therapies such as IV cyclophosphamide during flare-ups, to try and induce remission.
Mixed Connective Tissue Disease
This often presents with a combination of symptoms from:
- Systemic sclerosis
- SLE
- Polymyositis
Some clinicians still argue over whether it is actually a separate diagnosis
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