Systemic Sclerosis



The terms systemic sclerosis and scleroderma are often used interchangeably. Most patients with scleroderma have systemic sclerosis, however there is a localised version of scleroderma that only affects the skin. Scleroderma translates directly to hardening of the skin.

Systemic sclerosis is an autoimmune inflammatory and fibrotic connective tissue disease. The cause of the condition is unclear. It most notably affects the skin in all areas but it also affects the internal organs.

There are two main patterns of disease in systemic sclerosis:

  • Limited cutaneous systemic sclerosis
  • Diffuse cutaneous systemic sclerosis

 

Limited Cutaneous Systemic Sclerosis

Limited cutaneous systemic sclerosis is the more limited version of systemic sclerosis. It used to be called CREST syndrome. This forms a helpful mnemonic for remembering the features of limited cutaneous systemic sclerosis:

  • CCalcinosis
  • R Raynaud’s phenomenon
  • E – oEsophageal dysmotility
  • SSclerodactyly
  • TTelangiectasia

 

Diffuse Cutaneous Systemic Sclerosis

Diffuse cutaneous systemic sclerosis includes the features of CREST syndrome plus many internal organs causing:

  • Cardiovascular problems, particularly hypertension and coronary artery disease.
  • Lung problems, particularly pulmonary hypertension and pulmonary fibrosis.
  • Kidney problems, particularly glomerulonephritis and a condition called scleroderma renal crisis.

 

Features

Scleroderma refers to hardening of the skin. This gives a the appearance of shiny, tight skin without the normal folds in the skin. These changes are most notable on the hands and face.

Sclerodactyly describes the skin changes in the hands. As the skin tightens around joints it restricts the range of motion in the joint and reduces the function of the joints. As the skin hardens and tightens further the fat pads on the fingers are lost. The skin can break and ulcerate.

Telangiectasia are dilated small blood vessels in the skin. They are tiny veins that have dilated. They have a fine, thready appearance.

Calcinosis is where calcium deposits build up under the skin. This is most commonly found on the fingertips.

Raynaud’s phenomenon is where the fingertips go completely white and then blue in response to even mild cold. It is caused by vasoconstriction of the vessels supplying the fingers. This commonly occurs without any associated systemic disease, however it is a classical feature of systemic sclerosis.

Oesophageal dysmotility is caused by connective tissue dysfunction in the oesophagus. This is commonly associated with swallowing difficulties, acid reflux and oesophagitis.

Systemic and pulmonary hypertension is caused by connective tissue dysfunction in the systemic and pulmonary arterial systems. Systemic hypertension can be worsened by renal impairment.

Pulmonary fibrosis can occur in severe systemic sclerosis. This presents with gradual onset dry cough and shortness of breath.

Scleroderma renal crisis is an acute condition where there is a combination of severe hypertension and renal failure.

 

Autoantibodies

There are many autoantibodies involved in systemic sclerosis and they are helpful in predicting the extent of the disease and which organs will be affected. It is not worth memorising all of them unless you want to be a rheumatologist. The ones to remember are below.

Antinuclear antibodies (ANA) are positive in most patients with systemic sclerosis. They are not specific to systemic sclerosis.

Anti-centromere antibodies are most associated with limited cutaneous systemic sclerosis.

Anti-Scl-70 antibodies are most associated with diffuse cutaneous systemic sclerosis. They are associated with more severe disease.

 

Nailfold Capillaroscopy

This is a technique where the area where the skin meets the fingernails at the base of the fingernail (the nailfold) is magnified and examined. This allows us to examine the health of the peripheral capillaries. Abnormal capillaries, avascular areas and micro-haemorrhages indicate systemic sclerosis. It is useful to support a diagnosis of systemic sclerosis and to investigate patients with Raynaud’s phenomenon to exclude systemic sclerosis. Patients with primary Raynaud’s without systemic sclerosis will have normal nailfold capillaries.

Diagnosis

Diagnosis is based on classification criteria from the American College of Rheumatology (ACR) and European League Against Rheumatism (EULAR) published in 2013. This involves meeting a number of criteria for clinical features, antibodies and nailfold capillaroscopy.

 

Management

Patients with systemic sclerosis should be managed and followed up by a specialist multidisciplinary team.

Steroids and immunosuppressants are usually started with diffuse disease and complications such as pulmonary fibrosis. There is no standardised and proven treatment for systemic sclerosis. There is ongoing research trying to find effective ways of treating the condition.

 

Non-medical management involves:

  • Avoid smoking
  • Gentle skin stretching to maintain the range of motion
  • Regular emollients
  • Avoiding cold triggers for Raynaud’s
  • Physiotherapy to maintain healthy joints
  • Occupational therapy for adaptations to daily living to cope with limitations

 

Medical management focuses on treating symptoms and complications:

  • Nifedipine can be used to treat symptoms of Raynaud’s phenomenon
  • Anti acid medications (e.g. PPIs) and pro-motility medications (e.g. metoclopramide) for gastrointestinal symptoms
  • Analgesia for joint pain
  • Antibiotics for skin infections
  • Antihypertensives can be used to treat hypertension (usually ACE inhibitors)
  • Treatment of pulmonary artery hypertension
  • Supportive management of pulmonary fibrosis

 

Last updated April 2019
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