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
dsDNA
Sm
Rib-P
PCNA
U1-snRNP (70 kD, A and C)
SS-A/Ro (Ro52 and Ro60)
SS-B/La
Scl-70
CENP
Fibrillarin
RNA Polymerase III
Jo-1
Mi-2
PM-Scl
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
References
  1. Adebajo AO, et al. Collected reports on the rheumatic diseases. 2005. Available from www.arthritisresearchuk.org/~/media/Files/Education/Hands-On/IP03-Sep-2000.ashx; 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.

Are you a laboratory professional?

This educational website, provided by Thermo Fisher Scientific, ImmunoDiagnostics Division, has been produced in partnership with the Institute of Biomedical Science as a pioneering venture to promote excellence in laboratory practice using education and continuing professional development (CPD) resources.

The information contained within this website is intended for laboratory professionals.

By entering this website you are confirming that you are a laboratory professional.

Enter Website

We use cookies on our website to provide you with a good experience. You may choose to accept or decline our cookie usage. Our website may not be usable if you decline cookie usage. Click here to learn more about how we use cookies on our website.

Are you interested in receiving information from Thermo Fisher Scientific?

Yes, I would like to receive:

By submitting this form, you consent to Thermo Fisher Scientific collecting and processing your personal data

We also want to inform you we are cooperating with Veeva Systems Inc.’s Open Data syndicated database to ensure the contact information is always up to date. This means that subscribers to this database may access your professional contact information (name, job title, institution name and address) and if any user report a change to these basic public information this will be shared with all through the database. All relevant Veeva Systems Inc. servers are located inside the European Union.
For any privacy questions or concerns, or to exercise your rights as a data subject as described in our Privacy Policy, please contact us at dataprivacy@thermofisher.com

Your details have successfully been submitted.