Mixed Connective Tissue Disease

 

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Definition/Description[edit | edit source]

Mixed connective tissue disease (MCTD) is a systemic disease which consists of clinical symptoms observed in the three following disorders: systemic lupus erythematosus, polymyositis, and systemic sclerosis.[1,9] MCTD is considered an overlapping disease due to the features of these three disorders which can be categorized broadly as arthritic changes, cardiopulmonary dysfunctions, skin changes, muscle weakness, kidney disease, and dysfunctions of the esophagus.[10]

The symptoms associated with the three underlying disorders do not usually present all at once.4 In fact, it usually takes several years before the symptoms of each individual disorder present which ultimately complicates the diagnosis of MCTD.[4] Typically, the hands are affected and present as the first symptom of MCTD. Swelling to the fingers or the presentation of “sausage fingers” is common. As the disease progresses, it can often affect the organs such as lungs, heart or the kidneys. There is no definite cure for MCTD, however side effects can be managed through the use of medications.[5]

Prevalence[edit | edit source]

It has been reported that 80% of individuals diagnosed with MCTD are women with the highest prevalence under the age of thirty years of age.[4] Other sources have reported statistics collected from patients from 5 years of age through 80, with the peak prevalence around 20 years of age. [6] It is estimated that this disease occurs in about 3.8 out of every 100,000 individuals. [9]
 

Characteristics/Clinical Presentation[edit | edit source]

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Associated Co-morbidities[edit | edit source]

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Medications[edit | edit source]

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Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]

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Etiology/Causes[edit | edit source]

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Systemic Involvement[edit | edit source]

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Medical Management (current best evidence)[edit | edit source]

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Physical Therapy Management (current best evidence)[edit | edit source]

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Differential Diagnosis[edit | edit source]

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References[edit | edit source]

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