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Connective tissue diseases: a variety of symptoms and diagnoses

Connective Tissue Disease (CTD) is the collective term for a group of conditions characterized by the abnormal structure or function of one or more types of connective tissue.1 Patients with these uncommon conditions can suffer from a range of chronic and potentially irreversible or fatal symptoms, including tissue inflammation that results in symptoms like arthritis and rashes, tissue fibrosis, vascular thrombosis, and venous and/or arterial thrombosis (i.e, DVT, heart attack, stroke).1 CTDs are prominent in women between the ages of 20 and 40; they face an increased risk for miscarriage, premature delivery, and delayed fetal growth.2

The pathogenesis of CTDs is much more specific than the symptoms it causes. These diseases can affect critical tissues, including collagen, elastin, and glycosaminoglycan.3 Despite this commonality, the diseases cause diverse and overlapping symptoms, particularly early in the course of the disease. When considered along with the co-morbid conditions patients often have, CTDs can be challenging to diagnose.4

Diagnosing and treating clinicians must rely on a thorough patient history and testing to differentiate and diagnose CTDs accurately and get patients started on the treatment most applicable to their disease.


Test results aid in the clarification of a specific CTD diagnosis

One of the challenges in diagnosing CTDs is that the symptoms patients present with early on are relatively nondescript and can be indicative of other more common conditions.1 Clinicians looking to distinguish the patient’s diagnosis and pinpoint the exact CTD or CTDs present have the benefit of being able to use serological tests, which reveal that CTDs are associated with a variety of antinuclear antigens and other related antibodies.1

Certain CTDs are characterized by autoantibodies that are highly specific for individual diseases. Diagnostic tests, in conjunction with a thorough clinical history, can be used to help diagnose these CTDs earlier in the course of a patient's disease.4

Ro antibodies can be found in all CTDs. Ro antibodies are not specific for a certain CTD, but are the most frequent auto antibody found when you screen for CTDs. Other tests, such as antinuclear antibody (ANA) testing with indirect immunofluorescence, has a true weakness in detecting Ro antibodies and other specific antibodies (like Rib-P, Jo-1, dsDNA). However; Ro assays can detect these, which include EliA™ Ro and Symphony, SymphonyS CTD screen assays. These assays are fully automated.1,5

The laboratory testing you conduct can provide clinicians the details needed to clarify a patient’s overlapping symptoms and achieve an accurate diagnosis of one or more autoimmune diseases.

Treating CTDs can be as challenging as diagnosing them.

Getting the right diagnosis early is critical if the patient is to escape organ damage or early death.1 CTDs are relapsing/remitting conditions and the diagnosis can span quite some length of time and involve many providers. Patients who already feel isolated due to the morbidity caused by the disease and its uncommon nature can also come to a discord with his or her provider, who may appear to have misdiagnosed the disease. Patients who are pregnant or planning to become pregnant present with additional considerations. Pregnancy can cause symptom flares, which need to be accounted for during treatment to ensure healthy gestation.2

Many patients with CTDs are referred to a specialist who can develop a personalized treatment plan based on the specific known symptoms and diseases.1 The goals of any management plan are to maintain bodily function, where appropriate, and reduce symptoms. The results you provide to clinicians can help them develop a targeted plan that achieves those goals and may even improve a patient’s quality of life.

A treatment plan can include a variety of approaches, depending on the disease or diseases present. For example, medicine or joint replacement surgery may be needed to manage the musculoskeletal symptoms of CTDs, including joint pain and loss of function. Clinicians may also educate patients about the proper use of exercise, diet, and supplementation for overall health.

Several tests also exist to help clinicians continually monitor patients with one or more autoimmune disease and modify the treatment plan as needed.1

 

Learn more about the assays that help diagnose CTDs >

References

  1. Adebajo AO, Dickson DJ. Collected reports on the rheumatic diseases. 2005.  www.arthritisresearchuk.org/~/media/Files/Education/Hands-On/IP03-Sep-2000.ashx. Accessed on November 2017.

  2. Sarr P, Hermann W, Muller-Ladner U. Connective tissue disease and pregnancy. Rheumatology (Oxford). 2006;45:iii30-iii32.

  3. Gardner DL. Diseases of connective tissue: a consensus. Journal of Clinical Pathology 1978;31:223-238.

  4. Gaubitz M. Epidemiology of connective tissue disease. Rheumatology (Oxford). 2006;4:iii3-iii4.

  5. Lane SK, Gravel JW. Clinical utility of common serum rheumatologic tests. Am Fam Phys. 2002;65:1073-1080.