A Rare Case of Antinuclear Antibody-Negative Systemic Lupus Erythematosus Presenting With Generalized Lymphadenopathy as the Initial Manifestation

TL;DR

A rare case of ANA-negative lupus in a South Asian teenager highlights the need for careful diagnosis using broader criteria.

Contribution

This case report highlights the rarity and diagnostic challenges of ANA-negative pediatric SLE in South Asia.

Findings

A 16-year-old South Asian girl presented with generalized lymphadenopathy and other SLE symptoms despite being ANA-negative.

The patient fulfilled four ACR criteria for SLE and tested positive for anti-dsDNA antibodies.

The case underscores the importance of using comprehensive criteria like SLICC 2012 in ANA-negative SLE cases.

Abstract

Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder characterized by multisystem involvement and the presence of antinuclear antibodies (ANA). However, a subset of patients, particularly in the pediatric population, present with ANA-negative SLE, posing significant diagnostic challenges. This phenomenon is notably rare in South Asia, where ANA positivity is typically prevalent in SLE cases. The rarity of ANA-negative pediatric SLE underscores the necessity for heightened clinical vigilance and comprehensive diagnostic evaluation.

We report the case of a 16-year-old South Asian female patient who presented with generalized lymphadenopathy (LAD), fever, alopecia, oral ulcers, purpuric rashes, and polyarthritis. Despite the absence of detectable ANA (tested by enzyme-linked immunosorbent assay (ELISA); immunofluorescence (IF) was not performed due to resource limitations), the patient exhibited strongly positive anti-double-stranded DNA antibody (anti-dsDNA) antibodies, fulfilling four American College of Rheumatology (ACR) classification criteria for SLE. The patient responded positively to corticosteroid and hydroxychloroquine therapy, with subsequent resolution of symptoms and stabilization of blood counts.

ANA-negative pediatric SLE is an uncommon but clinically significant entity in South Asia. This case emphasizes the importance of applying comprehensive diagnostic criteria, such as the Systemic Lupus International Collaborating Clinics (SLICC) 2012, when ANA is negative. Clinicians should maintain a high index of suspicion for SLE in pediatric patients with multisystem involvement, ensuring early recognition and treatment to optimize outcomes.

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