Mixed Connective Tissue Disorder

Mixed connective tissue disease features signs and symptoms of a combination of disorders — primarily of lupus, scleroderma, and polymyositis. For this reason, mixed connective tissue disease is sometimes referred to as an overlap disease.

About the disease

In mixed connective tissue disease, the symptoms of the separate diseases usually don’t appear all at once. Instead, they tend to occur in sequence over a number of years, which can make diagnosis more complicated. Early signs and symptoms often involve the hands. Fingers may swell up severely, and the fingertips might turn white and become numb. In later stages, some organs — such as the lungs, heart and kidneys — may be affected.

Symptoms Of CTD

The ANA test is ordered when someone shows signs and symptoms that are associated with a systemic autoimmune disorder. People with autoimmune disorders can have a variety of symptoms that are vague and non-specific and that change over time, progressively worsen, or alternate between periods of flare-ups and remissions. Some examples of signs and symptoms include:

  • Hair loss
  • Muscle pain
  • Numbness or tingling in the hands or feet (Raynaud’s Syndrome)
  • Inflammation and damage to organs and tissues, including the kidneys, lungs, heart, lining of the heart, central nervous system, and blood vessels
  • Low-grade fever
  • Persistent fatigue, weakness
  • Arthritis-like pain in one or more joints
  • Red rash (for lupus, one resembling a butterfly across the nose and cheeks)
  • Skin sensitivity to light

More About The Disease

Early indications of mixed connective tissue disease may include:

  • General feeling of being unwell. Which may be accompanied by increased fatigue and a mild fever.
  • Cold and numb fingers. This is one of the most common early indicators, in which your fingers feel cold and numb, often in response to extreme cold or stress.
  • Swollen fingers. Many people who have CTD experience severe swelling in their hands and fingers.
  • Muscle and joint pain. CTD can result in muscle aches and joint swelling and pain. In some cases, the joints may become deformed, similar to what is seen in rheumatoid arthritis.

Tests Offered

Tests Offered
  • Vibrant™ ANA IFA Panel
  • RF IgM
  • hs-CRP
  • Vibrant™ ENA Profile-4
  • ENA Profile-6
  • Anti-CCP IgG and IgA
  • dsDNA

Test Results

Test Results

Patterns of Cellular Fluorescence

In addition to a titer, positive results on IFA will include a description of the particular type of fluorescent pattern seen. Different patterns have been associated with different autoimmune disorders, although some overlap may occur. Some of the more common patterns include:

  • Homogenous (diffuse)—associated with SLE, mixed connective tissue disease, and drug-induced lupus
  • Speckled—associated with SLE, Sjögren syndrome, scleroderma, polymyositis, rheumatoid arthritis, and mixed connective tissue disease
  • Nucleolar—associated with scleroderma and polymyositis
  • Centromere pattern (peripheral)—associated with scleroderma and CREST (Calcinosis, Raynaud syndrome, Esophogeal dysmotility, Sclerodactyly, Telangiectasia)
CTD Test Interpretation

This figure was developed by Vibrant America based on references 1-4. It is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on his/her education, clinical expertise, and assessment of the patient.

Lifestyle Changes and Improvements

Other methods to control symptoms of mixed connective tissue disease include:

  • Protect hands from cold. Cold and numb hands are a common symptom of MCTD. Wearing gloves and taking other measures to keep your hands warm can help.
  • Stop smoking. Smoking causes blood vessels to constrict, which can worsen the effect of Raynaud’s phenomenon.
  • Reduce stress. Raynaud’s phenomenon (fingers feeling cold or numb) is often triggered by stress. Relaxation techniques — such as slowing and focusing on your breathing — can help reduce your stress levels.
References

Kavanaugh A, Tomar R, Reveille J, et al: Guidelines for clinical use of the antinuclear antibody test and tests for specific autoantibodies to nuclear antigens. Arch Pathol Lab Med 2000;124:71-81

Homburger HA: Cascade testing for autoantibodies in connective tissue diseases. Mayo Clin Proc 1995;70:183-184

van Boekel MA, Vossenaar ER, van den Hoogen FH, van Venrooij WJ: Autoantibody systems in rheumatoid arthritis: specificity, sensitivity and diagnostic value. Arthritis Res 2002;4:87-93

Tomar R, Homburger H: Assessment of immunoglobulins and antibodies. In Clinical Immunology Principles and Practice. Second edition. Edited by R Rich, T Fleisher, W Shearer, et al. St. Louis, Mosby-Year Book, 2001, pp 120.1-120.14