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Connective Tissue Disease: Overview, Diagnosis, and Treatment 

About Connective Tissue Disease

Connective tissue diseases (CTDs) are a group of closely related multisystem disease conditions with many overlapping clinical features. The diverse and overlapping symptoms, particularly early in the course of the disease, can make diagnosis challenging. Prompt diagnosis and referral to specialist care is essential to prevent avoidable organ damage and death. CTDs are generally rare diseases, although prevalence differs extensively. Sjögren’s Syndrome is the most common CTD, with prevalence that varies from 0.5 percent to 3 percent within different populations.1

A common symptom of a CTD is nonspecific fatigue. Depending on which CTD is present, and how active it is, a wide variety of symptoms may occur. These include fevers, muscle joint pain and stiffness, weakness, and many other symptoms. Keep reading for a brief overview of symptoms on each particular disease.1,2

0.5% to 3% CTD prevalence

Sjögren’s Syndrome is the most common CTD with prevalence that varies within different populations.1

Connective tissues diseases include:

 

Sjögren’s Syndrome: Reacts to the tissue in glands that produce moisture, such as tear and salivary glands. It is a chronic, inflammatory disease that often progresses to a more complex, systemic disorder that can affect other tissues and organs in the body such as joints, skin, kidneys, lungs, nervous system, and the intestinal tract.1,2    

Systemic Lupus Erythematosus (SLE): Affects the skin, joints, blood vessels, and internal organs, especially the kidneys, heart, lungs, and brain.1,2

 

Systemic Sclerosis (SSc): Progressively affects the skin, blood vessels, lungs, gastrointestinal tract, kidneys, heart, and musculoskeletal tissues.1,2

Polymyositis/Dermatomyositis (PM/DM): Polymyositis causes muscle weakness, usually in the muscles closest to the trunk of your body. Dermatomyositis causes muscle weakness, plus a skin rash. General symptoms of myositis include fatigue after walking or standing, tripping or falling, and trouble swallowing or breathing.1,2

CTDs are a group of inflammatory, immune-mediated disorders that lead to subsequent tissue injury. Health-related quality of life (HRQoL), which is crucial for patients with CTDs, is reduced across all CTDs when compared to healthy subjects.3

Connective tissue disease: Refining differential diagnosis through testing

Serological tests reveal that connective tissue diseases (CTDs) are associated with a variety of autoantibodies. Certain CTDs are characterized by specific autoantibodies. Diagnostic tests, in conjunction with a thorough clinical history, can be used to help diagnose CTDs earlier in the course of a patient’s disease.

Try Symptom Selector

Not sure which allergy or autoimmune disease could be behind your patient’s symptoms? Use this interactive tool to take the next step in making your differential diagnosis. 

Testing Confidence

Testing Increases Diagnostic Confidence

Adding diagnostic testing to aid in a differential diagnosis has been shown to increase confidence in diagnosis to 90 percent.i,ii Conventionally, a diagnosis of allergic or autoimmune disease relies on the case history and a physical examination. However, adding diagnostic testing to aid in a differential diagnosis has been shown to increase confidence in diagnosis.i,ii Diagnostic testing can also help to improve the patient’s quality of life and productivity, reduce costs associated with absenteeism, and optimize use of medication, in addition to decreasing unscheduled healthcare visits.iii,iv 

i. Duran-Tauleria E, Vignati G, Guedan MJ, et al. The utility of specific immunoglobulin E measurements in primary care. Allergy. 2004;59 (Suppl78):35-41.
ii. NiggemannB, Nilsson M, Friedrichs F. Paediatric allergy diagnosis in primary care is improved by in vitro allergen specific IgE testing. Pediatr Allergy Immunol. 2008;19:325-331
iii. Welsh N, et al. The Benefits of Specific Immunoglobulin E Testing in the Primary Care Setting. J Am Pharm Assoc. 2006;46:627.
iv. Szeinbach SL, Williams B, Muntendam P, et al. Identification of allergic disease among users of antihistamines. J Manag Care Pharm. 2004; 10 (3): 234-238

Learn about autoimmune disease.

Learn more about testing.

Management and care of patients with connective tissue disease

Health-related quality of life (HRQoL), which is crucial for patients with CTDs, is reduced across all CTDs when compared to healthy subjects.Disease management and treatment is tailored to the specific CTD and can vary, based on disease, severity, and organ involvement.3

Clinical guidelines have been created for the management of many of these diseases, however, there are currently no consensus guidelines covering all the aspects of diagnosis and treatment of some CTDs, such as mixed connective tissue disease (MCTD) and polymyositis/dermatomyositis (PM/DM).4,5

 

 

References
  1. Gaubitz M. Epidemiology of Connective Tissue Disease. Rheumatology (Oxford). 2006;4 (Suppl 3):iii3-4.
  2. Shoenfeld Y, Meroni PL. The General Practice Guide to Autoimmune Diseases. Lengerich: Pabst Science Publishers; 2012.
  3. Fischer-Betz R, Schneider M. Connective tissue diseases: evaluation of clinical response. Rheumatology. 2006;45:iii5–iii7.
  4. Chaigne B, Scirè CA, Talarico R, et al. Mixed connective tissue disease: state of the art on clinical practice guidelines. RMD Open. 2019;4:e000784.
  5. Meyer A, Scirè CA, Talarico R, et al. Idiopathic inflammatory myopathies: state of the art on clinical practice guidelines. RMD Open. 2019;4:e000784.