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Mixed connective tissue disease
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Mixed connective tissue disease
Mixed connective tissue disease (MCTD) is a systemic autoimmune disease that shares characteristics with at least two other systemic autoimmune diseases, including systemic sclerosis (Ssc), systemic lupus erythematosus (SLE), polymyositis/dermatomyositis (PM/DM), and rheumatoid arthritis. The idea behind the "mixed" disease is that this specific autoantibody is also present in other autoimmune diseases such as systemic lupus erythematosus, polymyositis, scleroderma, etc. MCTD was characterized as an individual disease in 1972 by Sharp et al., and the term was introduced by Leroy in 1980.
Some experts consider MCTD to be the same as undifferentiated connective tissue disease, but other experts specifically reject this idea because undifferentiated connective tissue disease is not necessarily associated with serum antibodies directed against the U1-RNP. Furthermore, MCTD is associated with a more clearly defined set of signs and symptoms.
The early clinical features of MCTD are nonspecific and may include fatigue, low-grade fever, myalgias, Raynaud phenomenon, swelling of the fingers or hands, arthralgia, esophageal reflux or dysmotility, acrosclerosis (also known as sclerodactyly), mild myositis, and various forms of pulmonary involvement. MCTD can affect nearly any organ system.
Skin involvement is common in most people with MCTD and is frequently a presenting characteristic. The most prevalent skin change is Raynaud's phenomenon, which usually appears early in the course of the disease. Swollen digits are a common sign, and on occasion, the complete hand swells. Acrosclerosis, also known as sclerodactyly, can develop with or without proximal scleroderma and is usually a later symptom of the condition.
Rashes are found in 50–60% of patients. Common symptoms include photosensitivity and malar rashes, similar to those seen with SLE. Discoid lesions are also occasionally seen. Some patients with MCTD may have scleroderma-like symptoms such as squared telangiectasia on the hands and face, periungual telangiectasia, sclerodactyly, and calcinosis cutis.
Like systemic sclerosis, aberrant nailfold capillaroscopy with enormous capillaries, atypical forms, and low capillary density is a common hallmark of MCTD, and this can accumulate over time.
Approximately 60% of MCTD patients develop visible arthritis, frequently with rheumatoid arthritis (RA) deformities such as boutonniere deformities and swan neck alterations. Other features include tiny marginal erosions and destructive arthritis, such as arthritis mutilans.
The lungs are commonly affected in MCTD, with around 75% of patients having lung involvement. The most prevalent pulmonary complications of MCTD are interstitial lung disease (ILD) and pulmonary hypertension; however, a wide spectrum of other pulmonary problems have been recorded, including pleural effusions, pleuritic discomfort, alveolar hemorrhage, and thromboembolic illness. Early indications of pulmonary involvement include dyspnea, dry cough, and pleuritic chest pain.
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Mixed connective tissue disease
Mixed connective tissue disease (MCTD) is a systemic autoimmune disease that shares characteristics with at least two other systemic autoimmune diseases, including systemic sclerosis (Ssc), systemic lupus erythematosus (SLE), polymyositis/dermatomyositis (PM/DM), and rheumatoid arthritis. The idea behind the "mixed" disease is that this specific autoantibody is also present in other autoimmune diseases such as systemic lupus erythematosus, polymyositis, scleroderma, etc. MCTD was characterized as an individual disease in 1972 by Sharp et al., and the term was introduced by Leroy in 1980.
Some experts consider MCTD to be the same as undifferentiated connective tissue disease, but other experts specifically reject this idea because undifferentiated connective tissue disease is not necessarily associated with serum antibodies directed against the U1-RNP. Furthermore, MCTD is associated with a more clearly defined set of signs and symptoms.
The early clinical features of MCTD are nonspecific and may include fatigue, low-grade fever, myalgias, Raynaud phenomenon, swelling of the fingers or hands, arthralgia, esophageal reflux or dysmotility, acrosclerosis (also known as sclerodactyly), mild myositis, and various forms of pulmonary involvement. MCTD can affect nearly any organ system.
Skin involvement is common in most people with MCTD and is frequently a presenting characteristic. The most prevalent skin change is Raynaud's phenomenon, which usually appears early in the course of the disease. Swollen digits are a common sign, and on occasion, the complete hand swells. Acrosclerosis, also known as sclerodactyly, can develop with or without proximal scleroderma and is usually a later symptom of the condition.
Rashes are found in 50–60% of patients. Common symptoms include photosensitivity and malar rashes, similar to those seen with SLE. Discoid lesions are also occasionally seen. Some patients with MCTD may have scleroderma-like symptoms such as squared telangiectasia on the hands and face, periungual telangiectasia, sclerodactyly, and calcinosis cutis.
Like systemic sclerosis, aberrant nailfold capillaroscopy with enormous capillaries, atypical forms, and low capillary density is a common hallmark of MCTD, and this can accumulate over time.
Approximately 60% of MCTD patients develop visible arthritis, frequently with rheumatoid arthritis (RA) deformities such as boutonniere deformities and swan neck alterations. Other features include tiny marginal erosions and destructive arthritis, such as arthritis mutilans.
The lungs are commonly affected in MCTD, with around 75% of patients having lung involvement. The most prevalent pulmonary complications of MCTD are interstitial lung disease (ILD) and pulmonary hypertension; however, a wide spectrum of other pulmonary problems have been recorded, including pleural effusions, pleuritic discomfort, alveolar hemorrhage, and thromboembolic illness. Early indications of pulmonary involvement include dyspnea, dry cough, and pleuritic chest pain.