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Mixed connective tissue disease (MCTD) is a systemic disease which consists of clinical symptoms observed in the following three disorders: systemic lupus erythematosus, polymyositis, and systemic sclerosis (also known as systemic scleroderma).[1][2] MCTD is considered an "overlapping disease" as it contains features of these three disorders. The features can be categorized broadly as arthritic changes, cardiopulmonary dysfunctions, skin changes, muscle weakness, kidney disease, and dysfunctions of the oesophagus.[3]
The symptoms associated with the three underlying disorders do not generally present simultaneously.[4] It usually takes several years before the symptoms of each individual disorder present, which ultimately complicates the diagnosis of MCTD.[4] Typically, the first symptom to present is swelling of the fingers or the presentation of “sausage fingers”.[5] As the disease progresses, it can often affect multiple organs such as the lungs, heart, and/or kidneys.[3] There is no 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 in the age group under thirty.[4] Other sources have reported statistics collected from patients ages 5 through 80, with the peak prevalence around 20 years of age. [6] Estimates of this disease show it occurs in between 2-6.4out of every 100,000 individuals. [2]
Aetiology/Causes
The exact cause of MCTD is unknown, but it has been classified as an autoimmune disorder. Individuals with this disease have high levels of antinuclear antibodies (ANAs) and antibodies to U1 snRNP.[3]
A genetic link can be seen in MCTD in that some individuals diagnosed with MCTD report having a family member who also has a connective tissue disease.[5] Also, exposures to certain chemicals or viruses such as silica or polyvinyl chloride have been found as potential causes of MCTD.[5]
Characteristics/Clinical Presentation
The initial sign of MCTD may be shown as a presentation of puffy and swollen hands, Raynaud’s phenomenon, and polyarthritis.[1][2][3][7][8]
Some of the classical conditions or "signs” of MCTD include [5]
Raynaud phenomenon
Inflammation of muscles and joints
Pulmonary hypertension
Raynaud phenomenon
Swollen fingers, often “sausage-like”, can be a temporary stage of the disease, or may progress into limited movement of the fingers due to thinning of fingers and thickening of the skin[2]
The chart below lists some of the symptoms common versus uncommon symptoms in early stages of MCTD.[5]
Medical management is undertaken by a range of specialist working together. Since there is no cure yet for the disease, management is focussed on control of symptoms and minimising systemic involvement. A variety of medications will be used to manage the various symptoms associated with the disease (s)
Corticosteroids[4][6]- may be used to manage synovitis ( active, or more severe disease)
Anti-malarial drugs- may be used it manage synovitis, may help prevent disease flares [4]
Nonsteroidal anti-inflammatory drugs - may be used to manage arthritis/ arthralgia[2][6]-
Immunosuppressive drugs[6]- may be used to manage refractory synovitis and pulmonary hypertension in some patients
Calcium channel blockers[2][4]- may be used to treat Raynaud’s ( Vasodilation and possible antiplatelet effects)
Phosphodiesterase inhibitors[2]- may be used to treat pulmonary hypertension
Endothelial receptor antagonists [2] - may be used to treat pulmonary hypertension
Prostaglandins- may be used to treat pulmonary hypertension [2]
Proton pump inhibitors[2]- may be used for heartburn or swallowing problems
Currently, there are three different criteria classification systems that are associated with predicting the probability that an individual may have MCTD. These three classification systems are set forth by Modified Sharp et al (1987), Alarcon Segovia et al (1987), and Kauskawa et al (1987).[9] Listed below are the criteria sets that are presently used in the diagnosing MCTD.
Malar rash
Physical Therapy Management
Since there has been limited research regarding physical therapy treatment in patients with MCTD, interventions should be tailored to address the impairments of each individual. Although each person presents differently, there are some common areas that need to be addressed in nearly all cases. Individuals with MCTD often present with decreased aerobic capacity and weakness of the proximal musculature.[10] Physical therapists should treat according to the common deficits seen in the disease, as well as personal impairments that arise with each case.
Common areas of focus may include:
Patient education regarding joint protection
Aerobic and endurance training
Range of motion exercises to maintain available range
Passive stretching, including splinting for joint protection
↑ 7.07.1Tani C, Carli L, Vagnani S, et al. The diagnosis and classification of mixed connective tissue disease. J Autoimmun [Internet]. 2014 [Cited 2016 Mar 12];48-49:46-9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/24461387
↑ 8.08.18.2Cappelli S, Bellando randone S, Martinović D, et al. "To be or not to be," ten years after: evidence for mixed connective tissue disease as a distinct entity. Semin Arthritis Rheum [Internet]. 2012 [cited 2016 Mar 12];41(4):589-98. Available from http://www.ncbi.nlm.nih.gov/pubmed/21959290
↑ 9.09.19.2Ungprasert P, Wannarong T, Panichsillapakit T, et al. Cardiac involvement in mixed connective tissue disease: a systematic review. Int J Cardiol [Internet]. 2014 [Cited 2016 Mar 12];171(3):326-30. Available from: http://www.ncbi.nlm.nih.gov/pubmed/24433611
↑ 10.010.1Van der net J, Wissink B, Van royen A, Helders PJ, Takken T. Aerobic capacity and muscle strength in juvenile-onset mixed connective tissue disease (MCTD). Scand J Rheumatol [Internet]. 2010 [Cited 2016 Mar 12];39(5):387-92. Available from: http://www.ncbi.nlm.nih.gov/pubmed/20604672
↑Marigliano B, Soriano A, Margiotta D, Vadacca M, Afeltra A. Lung involvement in connective tissue diseases: a comprehensive review and a focus on rheumatoid arthritis. Autoimmun Rev [Internet]. 2013[Cited 2016 Mar 12];12(11):1076-84. Available from: http://www.ncbi.nlm.nih.gov/pubmed/23684699
