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
Arthralgia (joint pain)
Myalgia (muscle pain)
Lymphadenopathy (large lymph nodes)
More suggestive features
Raynaud's phenomenon, a condition where digits appear white or blue as a result of variable spasm of the digital arteries
Dryness of mucosal surfaces
Skin rashes, including photosensitive rashes, recurrent mucosal ulceration, discoid lupus and skin tightening
Recurrent unexplained foetal loss
Vascular events at an early age
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
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