Challenges in diagnosis of limited granulomatosis with polyangiitis

Olena Zimba1, Bohdana Doskaliuk2, Roman Yatsyshyn3

  • 1Department of Internal Medicine #2, Danylo Halytsky Lviv National Medical University, Lviv, Ukraine.

Insights

Granulomatosis with polyangiitis (GPA) can present atypically, leading to delayed diagnosis. Histological examination is crucial for accurate diagnosis, especially when ANCA is negative.

Area of Science:

  • Rheumatology
  • Pathology

Background:

  • Granulomatosis with polyangiitis (GPA) is a rare autoimmune disease often presenting with diverse clinical manifestations.
  • Delayed diagnosis of GPA can lead to severe complications and irreversible organ damage.

Observation:

  • A 71-year-old female experienced a 40-year diagnostic delay for GPA, presenting with atypical nasal symptoms and facial defects.
  • Laboratory tests were inconclusive, with negative anti-neutrophil cytoplasmic antibodies (ANCA) but elevated rheumatoid factor (RF) and anti-citrullinated protein antibody (ACPA).
  • Histological analysis revealed granulomas and lymphocytic infiltration, not definitive vasculitis, complicating the initial diagnosis.

Findings:

  • The case highlights a limited form of GPA with atypical serological and histological findings.
  • Despite negative ANCA, granuloma formation was a key diagnostic indicator.

Implications:

  • Emphasizes the critical need for increased clinician awareness of atypical GPA presentations.
  • Underscores the importance of histological examination in the differential diagnosis of GPA, particularly in challenging cases.
  • Suggests that a high index of suspicion and thorough pathological evaluation are vital for timely GPA diagnosis and treatment.

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