Reflective Practive

Connective tissue diseases

Patients with connective tissue diseases (CTDs) commonly present with a combination of non-specific and more suggestive clinical features. However, early symptoms can often mimic other common conditions, such as fibromyalgia. Features of CTD's include:1

Non-specific features of CTDs

More suggestive features

Other features

The diverse and overlapping symptoms of CTDs, particularly early in the course of the disease, can make diagnosis challenging2

Laboratory investigations should be used to help differentiate between conditions, potentially reducing the time to diagnosis

CTDs are uncommon - the most common CTD only occurs in 0.5-3% of the population - but should not be considered rare3
The symptoms of CTDs are quite diverse. The variable nature of these clinical manifestations is related to the fact that several key pathogenic mechanisms underlie these conditions1
There are a number of different CTDs, each is potentially life-threatening. CTDs include systemic lupus erythematous, systemic sclerosis, Sjögren's syndrome, inflammatory muscle diseases and overlap syndromes3

What are the benefits of early diagnosis?

The diverse and overlapping symptoms of connective tissue disease, particularly early in the course of the disease, can make diagnosis challenging.3 Testing can help to:1
  • Determine if referral to a specialist is appropriate
  • Ensure effective and timely treatment
  • Prevent organ damage and death

How can tests be used to personalise care?

Different autoantibodies are associated with different connective tissue diseases:2
Systemic lupus erythematous Neonatal lupus Sjögren's syndrome Systemic sclerosis Polymyositis and dermatomyositis Systemic sclerosis - polymyositis overlap syndrome Mixed connective tissue disease
U1-snRNP (70 kD, A and C)
SS-A/Ro (Ro52 and Ro60)
RNA Polymerase III
Once in specialist care, the patient will be diagnosed and managed by an interdisciplinary team. This team may include:
  • Laboratory professionals
  • Immunologists
  • Rheumatologists
  • Cardiologists
  • Pulmonologists
  • Nephrologists
  • Dermatologists
  • Specialist nurses
  • Psychologists
  • Pharmacists
  • Occupational therapists
  • Physiotherapists
  1. Adebajo AO, et al. Collected reports on the rheumatic diseases. 2005. Available from; last accessed March 2015.
  2. Gaubitz M. Rheumatology (Oxford) 2006;45 (Suppl 3): iii3-4.
  3. Lapraik C, et al. Rheumatology 2007; 46: 1-11.

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