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Mixed Connective Tissue Disease By Farshid Mokhberi

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Farshid Mokhberi
Farshid Mokhberi

Mixed connective tissue disease (MCTD) was first identified in 1972 and involves overlapping features of systemic lupus erythematosus, scleroderma, and myositis. The cause is unknown but likely involves autoimmunity against the U1-70 kD small nuclear ribonucleoprotein. Diagnosis requires high levels of anti-U1 RNP antibodies and a positive antinuclear antibody test. While prognosis can be poor if pulmonary hypertension develops, MCTD is generally very responsive to treatment with glucocorticoids.

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Mixed Connective Tissue Disease by Farshid Mokhberi Shahid beheshti University Of Medical Sciences & health services
Definition • Mixed connective-tissue disease (MCTD) was first recognized by Sharp and colleagues (1972) in a group of patients with overlapping clinical features: Systemic lupus erythematosus Scleroderma Myositis
Pathophysiology • B-lymphocyte hyperactivity • T-lymphocyte activationin • Apoptotic modification of the U1-70 kd antigen • Immune response against apoptotically modified self-antigens • Genetic association with major histocompatibility genes human leukocyte antigen (HLA)–DRB1*04/*15 • Vascular endothelial proliferation with widespread lymphocytic and plasmacytic infiltration of tissues
Etiology • The fundamental cause of MCTD remains unknown. • Autoimmunity to components of the U1-70 kd snRNP are a hallmark of disease. Anti-RNP antibodies can precede overt clinical manifestations of MCTD but after 1 year. • The loss of T-lymphocyte and B-lymphocyte tolerance, abnormalities of apoptosis, or molecular mimicry by infectious agents, and driven by U1-RNA-induced innate immune responses, are proposed current theories of pathogenesis.
Mixed Connective Tissue Disease By Farshid Mokhberi
Mixed Connective Tissue Disease By Farshid Mokhberi
Differential Diagnoses • Bacterial Sepsis • Dermatomyositis • Polymyositis • Primary Pulmonary Hypertension • Raynaud Phenomenon • Rheumatoid Arthritis • Scleroderma • Systemic Lupus Erythematosus (SLE)
Diagnosis • High titers of anti-U1-RNP antibody, of SLE, scleroderma, and inflammatory myositis. • High-titer speckled pattern fluorescent antinuclear antibody (FANA) is typical of MCTD • Anti-RNP antibodies are required for diagnosis of MCTD.The presence of anti–U1-70 kd is characteristic of MCTD. • MCTD can enter sustained remission later in the clinical course. Anti-RNP autoantibodies typically become undetectable in patients in remission.
Diagnostic Criteria
Diagnostic Criteria
Imaging Studies • Chest radiography : infiltrates, effusion, or cardiomegaly • Echocardiography: effusion ,pulmonary hypertension • Ultrasonography/CT scanning :abdominal pain (indicated for evidence of serositis, pancreatitis, or visceral perforation related to vasculitis) • MRI - Used to assess neuropsychiatric signs or symptoms
Treatment • MCTD: extremely responsive to Glucocorticoids
Mixed Connective Tissue Disease By Farshid Mokhberi
Prognosis  Mortality: • Progressive pulmonary hypertension and its cardiac complications. • Pulmonary hypertension due to scleroderma-like vasculopathy can lead to death in a few weeks. • Myocarditis • Renovascular hypertension and cerebral hemorrhage  Morbidity: • recurrent musculoskeletal pain • low energy levels • Flares of polymyositis • glucocorticoid use: aseptic necrosis, vertebral compression fractures, cataracts, weight gain, accelerated atherosclerosis, nosocomial infections, and proximal myopathy.
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Mixed Connective Tissue Disease By Farshid Mokhberi

  • 1. Mixed Connective Tissue Disease by Farshid Mokhberi Shahid beheshti University Of Medical Sciences & health services
  • 2. Definition • Mixed connective-tissue disease (MCTD) was first recognized by Sharp and colleagues (1972) in a group of patients with overlapping clinical features: Systemic lupus erythematosus Scleroderma Myositis
  • 3. Pathophysiology • B-lymphocyte hyperactivity • T-lymphocyte activationin • Apoptotic modification of the U1-70 kd antigen • Immune response against apoptotically modified self-antigens • Genetic association with major histocompatibility genes human leukocyte antigen (HLA)–DRB1*04/*15 • Vascular endothelial proliferation with widespread lymphocytic and plasmacytic infiltration of tissues
  • 4. Etiology • The fundamental cause of MCTD remains unknown. • Autoimmunity to components of the U1-70 kd snRNP are a hallmark of disease. Anti-RNP antibodies can precede overt clinical manifestations of MCTD but after 1 year. • The loss of T-lymphocyte and B-lymphocyte tolerance, abnormalities of apoptosis, or molecular mimicry by infectious agents, and driven by U1-RNA-induced innate immune responses, are proposed current theories of pathogenesis.
  • 7. Differential Diagnoses • Bacterial Sepsis • Dermatomyositis • Polymyositis • Primary Pulmonary Hypertension • Raynaud Phenomenon • Rheumatoid Arthritis • Scleroderma • Systemic Lupus Erythematosus (SLE)
  • 8. Diagnosis • High titers of anti-U1-RNP antibody, of SLE, scleroderma, and inflammatory myositis. • High-titer speckled pattern fluorescent antinuclear antibody (FANA) is typical of MCTD • Anti-RNP antibodies are required for diagnosis of MCTD.The presence of anti–U1-70 kd is characteristic of MCTD. • MCTD can enter sustained remission later in the clinical course. Anti-RNP autoantibodies typically become undetectable in patients in remission.
  • 11. Imaging Studies • Chest radiography : infiltrates, effusion, or cardiomegaly • Echocardiography: effusion ,pulmonary hypertension • Ultrasonography/CT scanning :abdominal pain (indicated for evidence of serositis, pancreatitis, or visceral perforation related to vasculitis) • MRI - Used to assess neuropsychiatric signs or symptoms
  • 14. Prognosis  Mortality: • Progressive pulmonary hypertension and its cardiac complications. • Pulmonary hypertension due to scleroderma-like vasculopathy can lead to death in a few weeks. • Myocarditis • Renovascular hypertension and cerebral hemorrhage  Morbidity: • recurrent musculoskeletal pain • low energy levels • Flares of polymyositis • glucocorticoid use: aseptic necrosis, vertebral compression fractures, cataracts, weight gain, accelerated atherosclerosis, nosocomial infections, and proximal myopathy.