Mixed connective tissue disease overview: Difference between revisions
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===X-ray=== | ===X-ray=== | ||
An [[X-rays|x-ray]] may be helpful in the diagnosis of [[Complication (medicine)|complications]] of mixed connective tissue disease, which include [[polyarthritis]] ([[soft tissue]] [[atrophy]], [[Calcification|calcifications]], distal [[interphalangeal]] | An [[X-rays|x-ray]] may be helpful in the diagnosis of [[Complication (medicine)|complications]] of mixed connective tissue disease, which include [[polyarthritis]] ([[soft tissue]] [[atrophy]], [[Calcification|calcifications]], distal [[interphalangeal]]<nowiki/>joint erosions, juxta-articular [[osteoporosis]], joint space narrowing, marginal erosions, joint [[Deformity|deformities]] without erosions, and [[osteonecrosis]]) and [[Interstitial lung disease]](ground−glass opacities, peripheral reticular infiltrates, and small irregular opacities). | ||
===Echocardiography and Ultrasound=== | ===Echocardiography and Ultrasound=== | ||
Revision as of 18:23, 18 April 2018
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Mixed connective tissue disease Microchapters |
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Differentiating Mixed connective tissue disease from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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Mixed connective tissue disease overview On the Web |
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Risk calculators and risk factors for Mixed connective tissue disease overview |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]
Overview
Historical Perspective
MCTD was first defined by Gordon C.Sharp et al., in 1972. It has been the first rheumatic disease syndrome defined by a serologic test. In 1976, Alarcon-Segovia proposed criteria for classifying MCTD among all types of connective tissue diseases. It demonstrates the close association between MCTD and Sjogren's syndrome.
Classification
There is no established system for the classification of mixed connective tissue disease.
Pathophysiology
MCTD is a systemic autoimmune disease that characterized by overlapping features between two or more systemic autoimmune diseases (systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), dermatomyositis (DM), polymyositis, and scleroderma) and the presence of antibodies against U1snRNP. Main pathogenetic mechanisms in mixed connective tissue disease include vasculopathy which leads to tissue ischemia, immunological and inflammatory processes and excessive fibrosis caused by redundant synthesis of collagen and other matrix proteins. In MCTD associated conditions include secondary Sjogren’s syndrome and trigeminal neuralgia. A significant association of U1RNP disease with HLA-DR4 and DR154-61 is noted. Gross pathology of skin may include photo-distributed erythematosus annular lesions and papulosquamous lesions and the histopathological abnormalities of skin lesions include poor and lichenoid interface dermatitis and suprabasilar exocytosis around necrotic keratinocytes.
Causes
Mixed connective tissue disease is an autoimmune disease and the exact cause is unknown.
Differentiating mixed connective tissue disease from Other Diseases
Cystic fibrosis has to be differentiated from other conditions with similar presentation of arthritis and rash like systemic lupus erythematosus, rheumatoid arthritis, rhupus, undifferentiated connective tissue disease, systemic sclerosis, Sjogren's syndrome, vasculitis, Behcet's syndrome, Kikuchi's disease, serum sickness, psoriatic arthritis and human parvovirus B19 infection.
Epidemiology and Demographics
The incidence of mixed connective tissue disease is approximately 2.7 per 100,000 individuals per year. A nationwide study showed the prevalence of mixed connective tissue disease was 2.7 per 100,000 individuals in Japan and 3.8 per 100,000 individuals in Norway. In MCTD, the mortality rate is nearly 10.4% over the period of 13-15 years. It is usually diagnosed during childhood and is is more frequent in the black population and among Asians. The female to male ratio is approximately 10 to 1.
Risk Factors
There are no established risk factors for mixed connective tissue diease.
Screening
There is insufficient evidence to recommend routine screening for mixed connective tissue disease.
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Study of Choice
The diagnostic criteria of Kasukawa include symptoms common to all the diseases involved, presence of antibodies against the U1snRNP, and selected symptoms typical of each of the particular component diseases separately (systemic lupus erythematosus, systemic sclerosis, polymyositis). The MCTD can be confirmed when there is at least one common symptom, positive antibodies reacting with U1RNP, and at least one symptom from each of the component diseases.
History and Symptoms
Patients with MCTD may have a positive history of raynaud’s phenomen, Arthralgia, gastroesophageal reflux, Myalgia and Dyspnea. Common symptoms of MCTD include swollen fingers (“sausage digits”), diffuse swelling of hands, and Dry cough. Less common symptoms include rashes, Alopecia, mild fever, Fatigue.
Physical Examination
Laboratory Findings
Electrocardiogram
There are no ECG findings associated with MCTD.
X-ray
An x-ray may be helpful in the diagnosis of complications of mixed connective tissue disease, which include polyarthritis (soft tissue atrophy, calcifications, distal interphalangealjoint erosions, juxta-articular osteoporosis, joint space narrowing, marginal erosions, joint deformities without erosions, and osteonecrosis) and Interstitial lung disease(ground−glass opacities, peripheral reticular infiltrates, and small irregular opacities).
Echocardiography and Ultrasound
CT scan
MRI
Musculoskeletal MRI can identify and characterize subclinical synovial inflammation and joint damage with a greater precision than X-rays. Also cardiac MRI is complementary for diagnosing pulmonary arterial hypertension.
Other Imaging Findings
There are no other imaging findings associated with mixed connective tissue disease.
Other Diagnostic Studies
Pulmonary function test may be helpful in the diagnosis of interstitial lung disease as a complication of MCTD. Findings suggestive of interstitial lung disease include significantly lower DLCO values in the active pulmonary stage and restrictive ventilatory defect (reduction of FEV1 and total lung capacity).
Treatment
Medical Therapy
The treatment of patients with MCTD is organ specific and depends on kind of internal organ involvement, phase of the disease, and rate of progression. Treatment strategies must follow conventional therapies that are used for similar problems in other rheumatic diseases (systemic lupus erythematosus, scleroderma, polymyositis). Patients usually react to low doses of steroids and non-steroidal anti-inflammatory drugs, in combination with immunosuppressive drugs or biologic agents. In refractory cases or in severe clinical conditions, immunoglobulins, cytotoxic agents or biologic drugs can be administered
Surgery
In MCTD, surgical options are the alternative for the patients who continue to progress in the disease related complications despite aggressive therapy. The surgical options include procedures like atrial septostomy and lung transplantation.
Primary Prevention
There are no established measures for the primary prevention of MCTD.