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Nucleolar ANA Pattern — SCE Rheumatology MCQ

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HardAutoimmune SerologyNucleolar ANA PatternSCE Rheumatology

A 48-year-old woman reports an 18-month history of Raynaud phenomenon, puffy fingers and gastro-oesophageal reflux. ANA testing by indirect immunofluorescence is positive at 1:640 with a nucleolar pattern. Anti-topoisomerase I (Scl-70), anticentromere and anti-RNA polymerase III antibodies are negative. Which interpretation and follow-on serological assessment is most appropriate?

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Correct answer: C — Systemic sclerosis spectrum; test for anti-Th/To, anti-U3 RNP (fibrillarin) and anti-PM/Scl antibodies

The correct answer is C. A high-titre nucleolar ANA, particularly with Raynaud phenomenon, puffy fingers and reflux, points toward the systemic-sclerosis spectrum even when anti-topoisomerase I, anticentromere and anti-RNA polymerase III are negative. Relevant nucleolar specificities include anti-Th/To and anti-U3 RNP/fibrillarin in systemic sclerosis, and anti-PM/Scl in systemic-sclerosis–myositis overlap. The patient should also undergo assessment for skin change, digital vasculopathy, abnormal nailfold capillaries and cardiopulmonary involvement. Anti-dsDNA and anti-Sm support SLE but do not characteristically produce this clinicoserological combination. Rheumatoid factor and anti-CCP identify rheumatoid arthritis, while anti-histone antibodies are associated with drug-induced lupus. A nucleolar pattern is not intrinsically diagnostic, but it should not be dismissed as clinically insignificant in this context.

Reference: Satoh M et al. Clinical Significance of Antinucleolar Antibodies: Biomarkers for Autoimmune Diseases, Malignancies, and Others. Clinical Reviews in Allergy & Immunology. 2022;63:210-239. https://pubmed.ncbi.nlm.nih.gov/35258843/