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From the American College of Rheumatology

Rheumatology for Primary Care
  • Symptoms
    • Fever
    • Joint Pain
    • Muscle Pain and/or Weakness
    • Rashes
    • Raynaud’s Phenomenon
  • Diseases
    • ANCA-Associated Vasculitis
    • Behcet’s Syndrome
    • Crystalline Arthropathies
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    • Giant Cell Arteritis
    • Henoch-Schönlein Purpura
    • IgG4-Related Disease
    • Juvenile Dermatomyositis
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    • Kawasaki Disease
    • Mixed Connective Tissue Disease
    • Multisystem Inflammatory Syndrome in Children
    • Myositis
    • Polyarteritis Nodosa
    • Polymyalgia Rheumatica
    • Rheumatoid Arthritis
    • Sarcoidosis
    • Sjogren’s Disease
    • Spondyloarthritis
    • Systemic Lupus Erythematosus
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  • Case Studies
    • ANCA-Associated Vasculitis
    • Behcet’s Syndrome
    • Crystalline Arthropathies
    • Giant Cell Arteritis
    • Henoch-Schönlein Purpura
    • IgG4-Related Disease
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    • Juvenile Inflammatory Arthritis
    • Kawasaki Disease
    • Mixed Connective Tissue Disease
    • Myositis
    • Pediatric Fevers
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    • Polymalgia Rheumatica
    • Raynaud’s Phenomenon
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Mixed Connective Tissue Disease Case Studies

Home ยป Mixed Connective Tissue Disease Case Studies
Mixed Connective Tissue Disease Case Studies
  • Case 1

  • Case 2

  • Case 1

A 24 yo F with no PMH presents with 6 months of joint pain and puffy hands. Mother with systemic lupus erythematosus. ROS notable for Raynaud’s (view image) and mild dyspnea on exertion.

Physical Exam

  • Synovitis of MCPs and wrists
  • Pitting at distal fingertips (view image); nailfold capillaroscopy
  • Normal pulmonary exam; RRR, prominent S2

Diagnostic Workup

  • Labs:
    • Hemoglobin 10.6, MCV 82; remaining CBC and BMP WNL
    • High titer ANA, speckled pattern; high titer RNP; negative Smith, anti-SSA (RO antibody), anti-SSB, dsDNA, centromere, Scl 70, RF, CCP antibodies
  • Imaging:
    • CXR: normal lung fields
    • TTE: dilated RV with normal function; normal LV size and function

Treatment & Further Workup

  • Referral to rheumatology and cardiology!
  • Hydroxychloroquine for MCTD and for inflammatory arthritis (weight-based dosing not to exceed 5 mg/kg)
  • Calcium-channel blocker for Raynaud’s
  • Right heart catheterization for workup of pulmonary artery hypertension
  • Case 2

A 29 yo F presents with trouble going up and down stairs, trouble brushing her hair, and dyspnea on exertion.

Physical Exam

  • Mildly puffy/swollen hands; no synovitis
  • 4-/5 strength of BL iliopsoas and deltoids; otherwise normal neurologic exam
  • Normal cardiopulmonary exam
  • No rashes
  • No tenderness over muscle groups

Diagnostic Workup

  • Labs:
    • High titer ANA, speckled pattern; high titer RNP; low complement; negative Smith, Ro, La, dsDNA, centromere, Scl 70, RF, CCP antibodies, myositis panel
    • CK 1,037
    • CBC shows platelets 120K
  • Imaging:
    • CXR shows reticular opacities at the BL bases (view image); CT demonstrates NSIP pattern of interstitial lung disease (ILD) (view image); TTE normal
    • MRI thigh with diffuse muscle edema (view image)

Treatment

  • Prednisone 40 mg daily
  • Neurology collaboration for trigeminal neuralgia and pulmonary collaboration for ILD
  • Consider mycophenolate, azathioprine, or rituximab for ILD and myositis

Raynaud's Phenomenon: Hands

Shows well-demarcated pallor in the fingers of both hands, characteristic of Raynaud's phenomenon, a manifestation of ischemia from peripheral vasospasm. Raynaud's is common in limited scleroderma, diffuse scleroderma, and mixed connective tissue disease (MCTD), but may also occur in the absence of any underlying disease.

The well-demarcated pallor present in the fingers of both hands is characteristic of Raynaud’s phenomenon, a manifestation of ischemia from peripheral vasospasm. Raynaud’s is common in limited scleroderma, diffuse scleroderma, and mixed connective tissue disease (MCTD), but may also occur in the absence of any underlying disease.

Pitting at Distal Fingertips

Digital pitting scars on the pulps of the index and middle fingers, secondary to chronic microvascular disease, are depicted in a patient with complaints of Raynaud's.

Digital pitting scars on the pulps of the index and middle fingers, secondary to chronic microvascular disease, are depicted in a patient with complaints of Raynaud’s.

Chest x-ray showing interstitial markings

Chest radiograph showing diffuse reticular interstitial markings.

Chest radiograph showing diffuse reticular interstitial markings.

Chest CT Showing Interstitial Markings

CT imaging of chest showing patchy consolidation in both lower lobes and increased interstitial markings in the periphery of the lungs.

CT imaging of chest showing patchy consolidation in both lower lobes and increased interstitial markings in the periphery of the lungs.

Thigh MRI

STIR magnetic resonance image of the proximal thigh muscles; inflammation appears as bright areas.

STIR magnetic resonance image of the proximal thigh muscles; inflammation appears as bright areas.

Related Links

MCTD Overview

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Primary Care2024-05-21T13:43:40+00:00

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This product was funded by a medical grant from Pfizer. The content was written by a physician work group. See Authors

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