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Chronic alveolar haemorrhage in a paediatric patient: a diagnostic and treatment challenge

Ana Freitas1, Virgílio Senra1, António Marinho2

  • 1Department of Pediatrics, Centro Hospitalar do Porto, Porto, Portugal.

BMJ Case Reports
|April 23, 2015
PubMed

Insights

Pulmonary haemosiderosis in a young woman was eventually diagnosed as ANCA vasculitis after a 12-year diagnostic delay. Treatment with cyclophosphamide and rituximab resolved respiratory symptoms and prevented further alveolar hemorrhage.

Area of Science:

  • Pulmonology
  • Rheumatology
  • Immunology

Background:

  • Pulmonary haemosiderosis, characterized by chronic alveolar hemorrhage, can stem from various causes, often presenting as idiopathic.
  • Early diagnosis and treatment are crucial to prevent severe cardiorespiratory complications and long-term disability.

Observation:

  • An 18-year-old female presented with a 12-year history of pulmonary haemosiderosis, initially unresponsive to corticosteroids, hydroxychloroquine, and azathioprine.
  • The patient developed interstitial lung disease with a restrictive pattern, unilateral cochlear deafness, and polyarthralgias.
  • An atypical myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA) pattern was identified at age 16, suggesting ANCA vasculitis.

Findings:

  • Diagnosis of ANCA vasculitis was delayed for 12 years despite chronic alveolar hemorrhage.
  • Treatment with cyclophosphamide and rituximab led to significant improvement in respiratory insufficiency and functional disability.
  • The combined therapy effectively halted further episodes of alveolar hemorrhage.

Implications:

  • This case highlights the importance of considering ANCA vasculitis in refractory pulmonary haemosiderosis, even with atypical presentations.
  • Timely diagnosis and aggressive immunosuppressive therapy (cyclophosphamide and rituximab) can significantly alter the disease course and improve outcomes.
  • Delayed diagnosis of ANCA vasculitis can lead to irreversible lung damage and systemic complications.

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