Systemic sclerosis

• Systemic sclerosis is an autoimmune connective tissue disease involving inflammation and fibrosis (hardening or scarring) of the connective tissues, skin and internal organs.
• The cause of systemic sclerosis is unknown
• There are two main patterns of disease in systemic sclerosis:

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

  • C – Calcinosis - calcium deposits under the skin
  • R – Raynaud’s phenomenon
  • E – oEsophageal dysmotility
  • S – Sclerodactyly - hardening of the skin of the hand that causes fingers to curl
  • T – Telangiectasia
• Diffuse cutaneous systemic sclerosis includes the CREST features and also affects internal organs, causing: 

  • Cardiovascular problems (e.g., hypertension and coronary artery disease)
  • Lung problems (e.g., pulmonary hypertension and pulmonary fibrosis)
  • Kidney problems (e.g., scleroderma renal crisis)
• Scleroderma refers to the hardening of the skin, giving the appearance of shiny, tight skin without the normal skin folds. These changes are most notable on the hands and face
• Sclerodactyly:

  • Skin changes in the hand
  • Skin tightening around the joints restricts the range of motion and reduces function
  • Fat pads on the fingers are lost
  • Skin can break and ulcerate
• Telangiectasia refers to dilated blood vessels in the skin measuring less than 1mm in diameter. Commonly on the face around the mouth
• Calcinosis refers to calcium deposits under the skin, most commonly found on the fingertips. 
• Oesophageal dysmotility is caused by atrophy and dysfunction of the smooth muscle, as well as fibrosis of the oesophagus. It causes swallowing difficulties, chest pain, 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 occurs in severe systemic sclerosis, with a gradual onset of dry cough and shortness of breath. 
• Scleroderma renal crisis is a medical emergency with severe hypertension and renal failure.
• Raynaud's phenomenon:

  • Fingertips change colour in response to mildly cold triggers
  • Vasoconstriction
  • Also associated with SLE
  • Raynaud's disease is when Raynaud's phenomenon occurs without an associated systemic disease
• Nailfold capillaroscopy:

  • Magnify and examine the peripheral capillaries at the nail fold
  • Abnormal capillaries, avascular areas and micro-haemorrhages suggest systemic sclerosis
  • Patients with Raynaud's disease have normal nailfold capillaries
• Management of Raynaud's:

  • Keep hands warm
  • Calcium channel blockers (nifedipine) - beta blockers worsen symptoms
  • Specialist drugs - losartan, ACE inhibitors, sildenafil and fluoxetine
• Autoantibodies:

  • ANA positive in most patients with systemic sclerosis - non specific
  • Anti-centromere antibodies are most associated with limited cutaneous systemic sclerosis
  • Anti-Scl-70 antibodies are more associated with diffuse cutaneous systemic sclerosis and more severe disease
• Diagnosis:

  • Clinical features
  • Antibodies
  • Nailfold capillaroscopy
• Management:

  • DMARDs (methotrexate) and biologic therapies (rituximab) are options in diffuse disease
  • Steroids may be considered but are associated with an increased risk of scleroderma renal crisis
• Non-medical management involves:

  • Avoiding smoking
  • Gentle skin stretching to maintain the range of motion
  • Regular emollients
  • Avoiding cold triggers for Raynaud’s
  • Physiotherapy to help maintain healthy joints
  • Occupational therapy for adaptations to daily living to cope with limitations
• Medical management for symptoms and complications:

  • Nifedipine for Raynaud's phenomenon
  • PPIs for acid reflux
  • Prokinetic medications (metoclopramide) for GI symptoms
  • Antihypertensives (ACE inhibitors) to treat hypertension and scleroderma renal crisis
  • Endothelial receptor antagonists and sildenafil for pulmonary hypertension
  • Stem cell transplantation may be considered in rapidly progressing severe disease but carries significant risks