Mixed Connective Tissue Disease

 

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Original Editors - Students from Bellarmine University's Pathophysiology of Complex Patient Problems project.

Top Contributors - Erica Hunter, Laci Sattler, Bridget Ward, Vidya Acharya, Kim Jackson, Elaine Lonnemann, WikiSysop and Sehriban Ozmen  

Definition/Description

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

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

The initial sign of MCTD may be shown as a presentation of puffy and swollen hands, Raynaud’s phenomenon, and polyarthritis.

Some of the “classical conditions or signs” of MCTD include:

• Inflammation of muscles and joints
• Pulmonary hypertension
• Raynaud’s phenomenon
• Swollen fingers, often “sausage like” and can be a temporary stage of the disease but also can progress into limited movement of the fingers due to thinning of fingers and thickening of the skin [9]
  

The chart below lists some of the symptoms common versus uncommon symptoms in early stages of MCTD. ^[5]

Associated Co-morbidities

Associated Co-morbidities

• Pulmonary Hypertension [4,9]
• Interstitial lung disease (20%) [4]
• Heart disease [4]
• Kidney damage (25%) [4]
• Digestive tract damage [4,12]
• Anemia (75%) [2,4,8]
• Necrosis [4]
• Hearing loss [2,4,5,8]
• Sjögren syndrome (25%) [9]
  

Medications

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Diagnostic Tests/Lab Tests/Lab Values

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Etiology/Causes

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Systemic Involvement

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Medical Management (current best evidence)

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Physical Therapy Management (current best evidence)

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Differential Diagnosis

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Case Reports/ Case Studies

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Resources

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Recent Related Research (from Pubmed)

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References

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