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Mixed connective tissue disorder

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Mixed connective tissue disorder

  1. 1. DR.Y.SASIKUMAR
  2. 2.  Mixed connective tissue disease (MCTD) is defined as a connective tissue disorder characterized by the presence of high titer anti-U1 ribonucleoprotein (RNP) antibodies in combination with clinical features commonly seen in systemic lupus erythematosus, scleroderma, and polymyositis.
  3. 3.  Mixed connective tissue disease (MCTD) was first recognized by Dr.Sharp and colleagues in 1972 People with MCTD are 1st diagnosed as SLE. As the disease progress and other signs and symptoms become apparent the diagnosis is corrected
  4. 4.  MCTD is much more common in women than in men (ratio of 16 : 1) The onset of MCTD can occur at any age but typically occurs in people aged 15-25 years.
  5. 5. Alarcon-Segovias criteria A. Serologic criteriaHigh titer Anti-RNP antibodies( ≥1:1600) B. Clinical criteria 1. Swollen fingers 2. Synovitis 3. Myositis 4. Raynauds phenomenon 5. AcrosclerosisMCTD is present if:Criterion A is accompanied by 3 or more clinical criteria - one of which must include synovitis or myositis.
  6. 6.  General features —In the early phases of the MCTD easy fatigability,myalgias, arthralgias.Fever — Fever of unknown origin may be the presenting feature of MCTD Skin —The most common skin change is the Raynaud phenomenon.Swollen digits and total hand edema.sclerodactyly and calcinosis cutis .Discoid plaques and malar rash.Mucous membrane involvement - orogenital and buccal ulcerations, nasal septal perforation.
  7. 7. Arthritis —joint involvement in MCTD is more common and frequently more severe than in classic SLE.Approximately 60 percent of patients with MCTD develop an obvious arthritis, often with deformities .Myositis —Myalgia is a common symptom in patients with the MCTD syndrome.
  8. 8.  Cardiac disease —All three layers of the heart may be involved in MCTD.Pericarditis is the commonest clinical manifestation of cardiac involvement being reported in 10 to 30% of patients;The presence of pulmonary hypertension may be suspected when the patient is having - • Exertional dyspnea • Systolic pulsation at the left sternal border • An accentuated second pulmonary sound • Dilation of the pulmonary artery on x-ray • Right ventricular hypertrophy on electrocardiogram
  9. 9.  Two-dimensional echocardiography with Doppler flow studies is the most useful screening test . Definitive diagnosis is requiring cardiac catheterization,will show a mean resting pulmonary artery pressure greater than 25mm Hg at rest.
  10. 10. Pulmonary involvement —The lungs are commonly affected in MCTD with involvement in about 75 percent of patients.• Pleural effusions• Pleuritic pain• Pulmonary hypertension• Interstitial lung disease • Alveolar hemorrhage• Diaphragmatic dysfunction• Aspiration pneumonitis/pneumonia• Obstructive airways disease• Pulmonary vasculitisHigh resolution computed tomography (HRCT) is a sensitive test to determine the presence of ILD.
  11. 11.  Renal disease —The absence of severe renal disease is a hallmark of MCTD.Some degree of renal involvement occurs in about 25 percent of patients.Membranous nephropathy is the most common finding.
  12. 12.  Gastrointestinal disease —Occurrs in about 60 % of patients.Disordered motility in the upper gastrointestinal tract is the commonest problem.Other involments are hemoperitoneum, duodenal bleeding,pancreatitis, ascites, and protein loosing enteropathy, primary biliary cirrhosis, hepatitis..
  13. 13.  Central nervous system diseaseAapproximately 25 % of patients have some mild form of CNS disease .The most frequent CNS manifestation is a trigeminal (fifth cranial) nerve neuropathy.
  14. 14.  Hematologic abnormalities —• Approximately 75% of patients have a low-grade anemia.•Leukopenia, mainly affecting the lymphocyte series, is a common finding.•The majority of patients have hypergammaglobulinemia..Less common problems include thrombocytopenia, hemolytic anemia.
  15. 15.  Pregnancy —40% prevalence of flares during pregnancySmall for gestational age infants occurred in 50% of pregnancies.The mechanism for pregnancy complications is probably an autoimmune reaction against placental tissues.
  16. 16. Treatment The overall goal of therapy is to control symptoms and to maintain function. Monitoring for development of complications, such as pulmonary hypertension or infection, is important.
  17. 17. ActivityConvincing data support the value of an active lifestyle and an exercise programme in patients with arthritis in MCTD.
  18. 18. Medication The goals of pharmacotherapy are to reduce morbidity and to prevent complications.Nonsteroidal anti-inflammatory drugs (NSAIDs) These agents reduce pain and inflammation and allow for improvement in mobility and function.
  19. 19. Proton pump inhibitors Esophageal reflux symptoms can be controlled effectively with these agents. Corticosteroids These agents are reserved for more active or severe disease.Calcium channel blocking agents Avoiding exposure to cold temperatures and using long-acting calcium channel blocking agents may control Raynaud phenomenon.
  20. 20. Phosphodiesterase (type 5) Enzyme Inhibitor Eg-sildenafil Phosphodiesterase inhibitors can relief symptoms of pulmonary hypertension and Raynaud phenomenon in patients with MCTD.
  21. 21. Endothelin Receptor Antagonist Eg- Ambrisentan These agents may be helpful for managing pulmonary hypertension in patients with MCTD. This leads to significant increase in cardiac index associated with significant reduction in pulmonary artery pressure, pulmonary vascular resistance. Improves exercise ability..
  22. 22. Prostaglandins Eg-Epoprostenol These agents may be useful for managing pulmonary hypertension in patients with MCTD. Strong vasodilator of all vascular beds. Decrease platelet clumping in the lungs by inhibiting platelet aggregation.
  23. 23. Cytotoxic agents Major organ involvement may require moderate-to-high divided daily doses of cytotoxic agents. Recent reports suggest that, in contrast to primary or scleroderma-associated pulmonary hypertension, a subset of MCTD patients with pulmonary hypertension may respond well to aggressive immunosuppression with cytotoxic agents.
  24. 24. PROGNOSIS Overall mortality is apparently lower in patients with MCTD than in those with classic SLE. The major disease related causes of death is Progressive pulmonary hypertension and its cardiac complications. The patients with MCTD emphasized the relatively good prognosis and excellent response to corticosteroids.
  25. 25. THANK YOU

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