Scleroderma / CREST

Scleroderma / CREST

Definitions

Systemic Sclerosis is a disease characterised by fibrosis across multiple organ systems

Scleroderma is another term used to refer to systemic sclerosis

Diffuse Cutaneous Systemic Sclerosis is a subcategory of the disease that affects multiple systems

Limited Cutaneous Systemic Sclerosis is a subcategory of the disease that affects fewer organs, notable sparing the kidneys and the skin on the trunk and proximal limbs

CREST syndrome is another name for limited cutaneous systemic sclerosis, and is an acronym for the main clinical features (see below)

General Information

• Most common in women aged 30 – 50
• Related to increased production of collagen in tissues
• Associated with positive ANAs
• Anti-centromere antibodies are most associated with limited sclerosis
• Scl-70 is most associated with systemic sclerosis

CREST syndrome (and the features of limited cutaneous systemic sclerosis)

• Calcinosis (hard, calcified nodules under the skin)
• Raynaud’s phenomenon
• Esophageal dysmotility (food gets stuck on swallowing, causing discomfort)
• Sclerodactyly (tightening and thickening of skin over the fingers distal to MCP joints)
• Telangiectasia (prominent dilated capillaries, particularly on the cheeks)

Clinical Manifestations

• The first noticeable symptom is usually in the fingers:
  • Skin becomes tight
  • Fingers become stiff and inflexible
  • Symptoms of Raynauds (fingers turn cold and blue in response to minor triggers)
• Later features include:
  • Tightening of skin elsewhere (notably on the face)
  • Tightening around the lips, shrinking the opening to the mouth
  • General fatigue
  • Joint and muscle pain
  • Ulceration secondary to skin tightening so much it tears and cannot heal
  • Vascular disease, including coronary artery disease
  • Pulmonary fibrosis
  • Pulmonary artery hypertension (PAH)
  • Renal failure (“scleroderma renal crisis”)

Management

• There is no cure and the disease is generally progressive
• Immunosuppressants are used to slow the disease progression (particularly cyclophosphamide)
• MDT infolvement for maintaining mobility and quality of life:
  • Physiotherapy
  • Occupational therapy
• Symptomatic treatment for clinical features:
  • Analgesia
  • Calcium channel blockers for Raynauds (i.e. nifedipine)
  • Topic skin emollients
  • PPI and antacids for oesophageal reflux
  • Treating PAH (bosentan, sildenafil, iloprost)