The mixed connective tissue disease (MCTD) is a rather rare, specifically defined, overlap syndrome, which combines the clinical features of SLE, systemic sclerosis, and polymyositis and is further characterized by the detection of high-titer anti-nuclear ribonucleoprotein antibodies. Typical findings include swelling of the hands, Raynaud’s syndrome, polyarthralgia, inflammatory myopathy, Ösophagusmotilitätsstörung and pulmonary dysfunction. The diagnosis is made by combining typical clinical features, the detection of antibodies to ribonucleoprotein and the absence of autoantibodies that are typical of other system disease. Treatment depends on the severity of the disease and organ involvement, but usually includes corticosteroids and immunosuppressants additionally.

The MCTD occurs worldwide and in all ethnic groups before, most often between 10 and 30 years of age. Over 80% of people who have this disease are women. The cause is unknown. Sometimes it turns into a classic form of systemic sclerosis or SLE.

The mixed connective tissue disease (MCTD) is a rather rare, specifically defined, overlap syndrome, which combines the clinical features of SLE, systemic sclerosis, and polymyositis and is further characterized by the detection of high-titer anti-nuclear ribonucleoprotein antibodies. Typical findings include swelling of the hands, Raynaud’s syndrome, polyarthralgia, inflammatory myopathy, Ösophagusmotilitätsstörung and pulmonary dysfunction. The diagnosis is made by combining typical clinical features, the detection of antibodies to ribonucleoprotein and the absence of autoantibodies that are typical of other system disease. Treatment depends on the severity of the disease and organ involvement, but usually includes corticosteroids and immunosuppressants additionally. The MCTD occurs worldwide and in all ethnic groups before, most often between 10 and 30 years of age. Over 80% of people who have this disease are women. The cause is unknown. Sometimes it turns into a classic form of systemic sclerosis or SLE. Symptoms and signs A Raynaud’s syndrome may precede other manifestations by years. Often the first manifestations are similar to early forms of SLE, systemic sclerosis, polymyositis, or RA. Many patients appear to have an undifferentiated connective tissue disease at the outset. The disease tends to progress and spread, the clinical picture often changes in the course. A diffuse swelling of the hands is typical, but not always. On the skin you see rashes that resemble SLE or dermatomyositis. In contrast, the MCTD lesions as systemic sclerosis or acral ulceration and necrosis are much rarer in the frame. Almost all patients have polyarthralgia, 75% have a unique arthritis. Usually it is a Non-erosive form, but there are also RA-like erosive changes and deformities before (eg. As buttonhole and Schwanenhalsdeformitäten). Proximal muscle weakness with or without pain is frequent. Renal involvement (most commonly membranous nephropathy) occurs in about 25% of patients and is usually mild; a heavy involvement with morbidity or mortality is atypical of MCTD. The lungs are affected in up to 75% of patients with MCTD. Most common manifestation of lung interstitial lung disease; Pulmonary hypertension is a major cause of death. There may be a failure occur. Sjogren’s syndrome can develop. A trigeminussensorische neuropathy is the apparent feature and is considered the most common CNS manifestation. Diagnostic test for antinuclear antibodies (ANA), antibodies to extractable nuclear antigens (antibodies against U1-ribonucleoprotein or RNP) and Smith [SM]) and anti-DNA antibodies determination of organ involvement as clinically indicated at a MCTD should be considered when additional overlapping symptoms in patients with putative SLE, systemic sclerosis and polymyositis. Tests for ANA and antibodies to U1-RNP antigen are performed first. Almost all patients have high ANA titers (> 1: 1000) with speckled nuclear pattern by immunofluorescence and very high U1-RNP titer (> 1: 100,000). Antibodies against the Sm ribonukleaseresistente component of extractable nuclear antigen (anti-Sm antibodies) and against double-stranded DNA (negative in MCTD by definition) be measured to rule out other diseases. The RF is often present and high titres, the BSG often increased. Pulmonary hypertension should be detected as early as possible. The further evaluation depends on the existing spectrum of symptoms and signs, according painless to find there is evidence of myositis as well as renal or pulmonary involvement (z. B. CK, MRI, EMG or muscle biopsy in Myositisverdacht). Prognosis The overall 10-year survival rate is 80%, in individual cases, the prognosis is determined by the existing manifestations. Patients with features of systemic sclerosis and polymyositis have a worse prognosis. Patients have an increased risk of atherosclerosis. Possible causes of death pulmonary hypertension, renal failure, myocardial infarction, colon perforation, sepsis or hemorrhage eligible. However, some patients have sustained remissions over many years without need for therapy. Therapy NSAIDs or antimalarials in mild disease corticosteroids in moderate to severe disease Occasionally, other immunosuppressants The general management and initial drug therapy tailored to the specific clinical problem and are similar to those in SLE or the dominant clinical phenotype. speak Almost all patients with moderate or high disease activity – v. a. in premature initiation of therapy – on to corticosteroids. With low disease activity often the use of NSAIDs, antimalarial drugs or sometimes low-dose corticosteroids enough. Solid organ involvement requires high doses of corticosteroids (e.g., prednisone 1 mg / kg / day) and in addition immunosuppressants. When symptoms of myositis or scleroderma the therapeutic approach meets these diseases. All patients should be observed closely for atherosclerosis. Patients with long-term corticosteroid therapy should receive osteoporosis prevention. Prophylaxis against opportunistic infections such. Pneumocystis jirovecii should be in addition, if a combined immunosuppressive therapy is applied. Summary MCTD very often resembles a SLE, systemic sclerosis and / or polymyositis. Typically, ANA and antibodies to U1-RNP present and absent anti-Sm and anti-DNA antibodies. Pulmonary hypertension is to anticipate. The treatment of mild disease courses is done with NSAIDs or antimalarials and severe courses of disease with corticosteroids and, occasionally, other immunosuppressants.

Health Life Media Team

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