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Difficulty: MediumRheumatology and Immunology

Match each clinical presentation to the most appropriate and specific diagnostic autoantibody test.

  • A 45-year-old woman with skin thickening on her fingers, digital blanching in the cold, and pulmonary arterial hypertension.Anti-centromere antibody
  • A 33-year-old woman with systemic lupus erythematosus, a history of recurrent miscarriages, and a prolonged activated partial thromboplastin time.Anti-beta-2 glycoprotein I antibody
  • A 40-year-old woman with progressive difficulty climbing stairs, an erythematous rash on her knuckles, and periorbital edema.Anti-Jo-1 antibody
  • A 50-year-old woman with a severe foreign body sensation in her eyes, difficulty chewing dry foods, and parotid swelling.Anti-Ro/SSA antibody

Answer

Match the limited systemic sclerosis vignette to anti-centromere antibody; the antiphospholipid syndrome vignette to anti-beta-2 glycoprotein I antibody; the dermatomyositis vignette to anti-Jo-1 antibody; and the Sjögren syndrome vignette to anti-Ro/SSA antibody.
Each major connective tissue disease has highly characteristic autoantibodies that correlate with its specific clinical manifestations. Limited cutaneous systemic sclerosis is marked by anti-centromere antibodies. Antiphospholipid syndrome is diagnosed using anti-beta-2 glycoprotein I, anti-cardiolipin, or lupus anticoagulant assays. Dermatomyositis strongly correlates with anti-Jo-1 antibodies. Sjögren syndrome is classically characterized by anti-Ro/SSA and anti-La/SSB antibodies.

Step-by-Step Solution

1
Analyze the first vignette describing sclerodactyly, Raynaud phenomenon, and pulmonary hypertension.
Identify the diagnosis as limited cutaneous systemic sclerosis.
This establishes the need to match the condition with its highly specific marker, the anti-centromere antibody.
2
Evaluate the second vignette featuring recurrent miscarriages and a prolonged aPTT in a patient with SLE.
Identify the diagnosis as secondary antiphospholipid syndrome.
This leads to matching the presentation with an antiphospholipid marker, specifically the anti-beta-2 glycoprotein I antibody.
3
Assess the third vignette detailing proximal muscle weakness, Gottron papules, and a heliotrope rash.
Identify the diagnosis as dermatomyositis.
This phenotype corresponds directly to myositis-specific autoantibodies, notably the anti-Jo-1 antibody.
4
Review the fourth vignette presenting with keratoconjunctivitis sicca, xerostomia, and parotid gland swelling.
Identify the diagnosis as Sjögren syndrome.
This condition is confirmed serologically by matching it to the anti-Ro/SSA antibody.

Key Concept

Autoantibodies in Rheumatologic Connective Tissue Diseases
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Topics

Rheumatology and Immunology

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