Mixed Connective Tissue Disease

 

Welcome to PT 635 Pathophysiology of Complex Patient Problems This is a wiki created by and for the students in the School of Physical Therapy at Bellarmine University in Louisville KY. Please do not edit unless you are involved in this project, but please come back in the near future to check out new information!!

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

add text here

Diagnostic Tests/Lab Tests/Lab Values

Laboratory Testing Often Includes:^[9]

• Anti-U1-RNP (rubonucleoprotein) antigens
• Urinalysis
• Muscle enzymes (myositis involvement)
• Complete blood count (CBC)
• Antinuclear antibodies
• Lipase and amylase (pancreatitis involvement)
• Routine blood chemistry

To check for systemic involvement, the following imaging testing can be performed^[9]

• Chest radiography- assesses for infiltrates, effusions, and cardiomegaly
• MRI- asses for neuropsychiatric signs or symptoms
• CT scan/ultrasound- evaluates abdominal pain in cases of suspected serositis, pancreatitis, and/or visceral perforation related to vasculitis
• Echocardiography- assesses for effusion, chest pain, pulmonary hypertension, or valvular disease

Systemic involvement tests may also include cardiopulmonary testing, such as:^[11]

• Electrocardiography
• Pulmonary function tests
• Six minute walk test ^[10]

Currently, there are three different criteria sets given by three authors: Modified Sharp et al (1987), Alarcon Segovia et al (1987), Kauskawa et al (1987) .8 However, there is no standard or universal criteria set. There are currently three different criteria classification systems that are associated to predicting the probability that an individual may have MCTD. Listed below are the criteria sets that are presently used in the diagnosing MCTD.

Etiology/Causes

add text here

Systemic Involvement

add text here

Medical Management (current best evidence)

add text here

Physical Therapy Management (current best evidence)

add text here

Differential Diagnosis

add text here

Case Reports/ Case Studies

add links to case studies here (case studies should be added on new pages using the case study template)

Resources

add appropriate resources here

Recent Related Research (from Pubmed)

see tutorial on Adding PubMed Feed

References

see adding references tutorial.