Skip to Main Content
Home Books Quick Medical Diagnosis & Treatment 2021

Connective Tissue Disease, Mixed

For further information, see CMDT Part 20-13: Mixed Connective Tissue Disease & Overlap Syndromes

Key Features

  • Many patients with symptoms and signs of a connective tissue disease have features of more than one type of rheumatic disease

  • Special attention has been drawn to a subset of antinuclear antibody–positive patients who have high titers of RNP autoantibodies and overlapping features of SLE, scleroderma, rheumatoid arthritis and inflammatory myositis

Clinical Findings

  • Swollen or puffy hands are a common early feature of disease

  • Raynaud phenomenon, arthralgias and myalgias are common

  • Unlike patients with SLE, renal or central nervous system disease is uncommon

  • A key reason to identify this subset of patients is that pulmonary hypertension and interstitial lung disease are major causes of mortality, and regular screening for these manifestations is required

Diagnosis

  • Clinical

  • Table 20–7

  • Differential diagnosis

    • SLE

    • Scleroderma

    • Polymyositis

    • Sjögren syndrome

    • Rheumatoid arthritis

    • Eosinophilic fasciitis

    • Graft-versus-host disease

Table 20–7.Frequency (%) of autoantibodies in rheumatic diseases.1
View Table||Download (.pdf)
Table 20–7. Frequency (%) of autoantibodies in rheumatic diseases.1
  ANA Anti-Native DNA Rheumatoid Factor Anti-Sm Anti-SS-A Anti-SS-B Anti-SCL-70 Anti-Centromere Anti-Jo-1 ANCA
Rheumatoid arthritis 30–60 0–5 70 0 0–5 0–2 0 0 0 0
Systemic lupus erythematosus 95–100 60 20 10–25 15–20 5–20 0 0 0 0–1
Sjögren syndrome 95 0 75 0 65 65 0 0 0 0
Diffuse scleroderma > 95 0 30 0 0 0 33 1 0 0
Limited scleroderma (CREST syndrome) > 95 0 30 0 0 0 20 50 0 0
Polymyositis/dermatomyositis 80 0 33 0 0 0 0 0 20–30 0
Granulomatosis with polyangiitis 0–15 0 50 0 0 0 0 0 0 93–961

1Frequency for generalized, active disease.

ANA, antinuclear antibodies; Anti-Sm, anti-Smith antibody; anti-SCL-70, anti-scleroderma antibody; ANCA, antineutrophil cytoplasmic antibody; CREST, calcinosis cutis, Raynaud phenomenon, esophageal motility disorder, sclerodactyly, and telangiectasia.

Treatment

  • Guided more by the distribution and severity of organ system involvement than by therapies specific to these overlap syndromes

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.

This site uses cookies to provide, maintain and improve your experience. MHE Privacy Center Close