Haemoptysis

Definition

• Expectoration of blood from the lower respiratory tract
• Rare but serious symptom in paediatric patients
• May range from mild, self-limiting episodes to life-threatening pulmonary haemorrhage requiring urgent intervention.
• Far less common than in adults 
• often an indication of a serious underlying disorder, including infections, congenital anomalies, vascular malformations, or autoimmune diseases

Haemoptysis in paediatric rheumatology 

Acute vs. Chronic Haemoptysis 

Acute Haemoptysis

• Sudden onset, usually lasting hours to days
• Often associated with acute inflammation or a sudden exacerbation of an underlying disease
• More likely to be severe and rapidly progressive in children, particularly in pulmonary-renal syndromes
• Causes:
  • Diffuse Alveolar Hemorrhage (DAH): A severe manifestation of systemic lupus erythematosus (SLE), ANCA-associated vasculitis (AAV) and Goodpasture syndrome (GPS)
  • IgA Vasculitis (formerly Henoch Schönlein purpura): Extremely rare cause of pulmonary haemorrhage but can be associated with severe renal involvement
  • Acute flares of ANCA-associated vasculitis (AAV) or lupus pneumonitis.

Chronic Haemoptysis

• Persistent or recurrent blood-streaked sputum over weeks to months
• More likely due to chronic inflammatory lung disease, recurrent alveolar haemorrhage, or a genetic disorder
• Paediatric patients may not always report mild haemoptysis, delaying diagnosis
• Causes:
  • COPA Syndrome: A monogenic autoimmune disorder presenting with recurrent alveolar haemorrhage and interstitial lung disease in children.
  • Idiopathic Pulmonary Hemosiderosis (IPH): A chronic cause of recurrent alveolar bleeding, leading to iron deposition, anaemia, and pulmonary fibrosis
  • Recurrent vasculitis-associated alveolar haemorrhage, particularly in relapsing AAV.

Idiopathic Pulmonary Hemosiderosis (IPH)

• A rare paediatric disorder characterized by recurrent diffuse alveolar haemorrhage
• Aetiology remains unknown, but some cases are associated with autoimmune processes
• Clinical triad: Recurrent haemoptysis, iron deficiency anaemia, diffuse pulmonary infiltrates
• Diagnosis:
  • High-resolution CT (HRCT): Shows diffuse ground-glass opacities and hemosiderin deposition
  • Bronchoalveolar lavage (BAL): Presence of hemosiderin-laden macrophages
  • Lung biopsy: Helpful in atypical cases
• Treatment:
  • First-line: Corticosteroids to reduce inflammation
  • Immunosuppressants: Rituximab or azathioprine in refractory cases
  • Supportive care

COPA Syndrome

• A monogenic autoimmune disorder caused by mutations in the COPA gene (autosomal dominant)
• Clinical presentation: recurrent alveolar haemorrhage, interstitial lung disease, arthritis, and kidney involvement
• Paediatric onset common, with symptoms appearing as early as infancy
• Diagnosis:
  • Genetic testing for COPA mutations.
  • HRCT: Shows interstitial lung disease and ground-glass opacities
  • BAL: Hemosiderin-laden macrophages
• Treatment:
  • First-line: Corticosteroids to reduce inflammation
  • Immunosuppressants (rituximab, cyclophosphamide) 
  • Biologic agents targeting IL-6 or TNF-α 

IgA Vasculitis (see separate chapter)

• Most common paediatric vasculitis but rarely causes pulmonary hemorrhage

Systemic Lupus Erythematosus and diffuse alveolar hemorrhage (see separate chapter)

• Paediatric SLE often presents with more severe organ involvement than adult-onset SLE.
• Diffuse alveolar haemorrhage (DAH) is rare but life-threatening.
• Risk factors:
  • High disease activity (SLEDAI score).
  • Lupus nephritis.
  • Presence of antiphospholipid antibodies.
• Diagnosis of SLE:
  • ANA (≥1:80 titer) – required
  • Clinical criteria (Constitutional, hematologic, neuropsychiatric, mucocutaneous, serosal, musculoskeletal, renal)
  • Immunologic criteria
• Diagnosis of DAH:
  • HRCT: Diffuse ground-glass opacities and alveolar consolidation.
  • BAL: Hemorrhagic fluid with hemosiderin-laden macrophages
• Treatment:
  • High-dose corticosteroids
  • Cyclophosphamide or rituximab
  • Plasmapheresis in severe cases

ANCA-Associated Vasculitis in Children (see separate chapter)

• Includes granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis (EGPA)
• Paediatric AAV is aggressive, often presenting with rapidly progressive glomerulonephritis (RPGN) and alveolar hemorrhage
• Diagnosis:
  • ANCA serology (PR3/MPO antibodies).
  • Renal biopsy: Shows pauci-immune necrotizing glomerulonephritis
  • Lung biopsy if needed 
• Treatment:
  • Induction therapy: Corticosteroids + cyclophosphamide or rituximab.
  • Maintenance: Azathioprine, mycophenolate mofetil (MMF), or rituximab
  • Plasmapheresis in severe cases

Goodpasture Syndrome (GPS) in Children

• Extremely rare in paediatrics.
• Caused by anti-glomerular basement membrane (GBM) antibodies, leading to alveolar haemorrhage and rapidly progressive glomerulonephritis
• Diagnosis:
  • Anti-GBM antibody testing.
  • Renal biopsy
• Treatment:
  • Plasmapheresis
  • Corticosteroids + cyclophosphamide.

Conclusion

• Paediatric haemoptysis due to autoimmune diseases is rare but life-threatening
• More common causes of haemoptysis have to be ruled out
• Pulmonary-renal syndromes (AAV, GPS, COPA, SLE) should be promptly recognized and treated aggressively
• Early diagnosis and immunosuppressive therapy are crucial to improving outcomes.
• Future directions include targeted biologic therapies and genetic screening for monogenic causes like COPA syndrome

Differential diagnosis of haemoptysis in children:

• Infectious causes
  • Bacterial pneumonia (e.g., Staphylococcus aureus, Streptococcus pneumoniae, Klebsiella)
  • Tuberculosis (TB) – Primary or reactivation TB
  • Fungal infections (e.g., Aspergillosis, Histoplasmosis, Mucormycosis)
  • Viral pneumonia (e.g., Influenza, RSV, Adenovirus)
  • Parasitic infections (e.g., Hydatid disease, Paragonimiasis in endemic areas)
• Autoimmune & vasculitic causes
  • Primary systemic vasculitis
    • ANCA-Associated Vasculitis (Granulomatosis with polyangiitis, Microscopic polyangiitis)
    • IgA Vasculitis – Rare pulmonary involvement
  • Systemic Lupus Erythematosus (SLE) – Diffuse alveolar hemorrhage, lupus pneumonitis
  • Goodpasture Syndrome (Anti-GBM Disease) – Pulmonary hemorrhage and glomerulonephritis
  • Idiopathic pulmonary hemosiderosis (IPH) – Recurrent alveolar hemorrhage without systemic disease
  • COPA Syndrome – Monogenic disorder with alveolar hemorrhage, arthritis, and renal disease
• Cardiovascular causes
  • Congenital heart disease, pulmonary arteriovenous malformations (AVMs) – hereditary hemorrhagic telangiectasia (HHT), pulmonary hypertension
• Airway & structural abnormalities
  • Foreign body aspiration, bronchiectasis, tracheobronchial malformations, neoplasm (rare)
• Trauma & iatrogenic causes
• Hematologic & coagulation disorders
  • Thrombocytopenia, haemophilia, coagulopathy (e.g. disseminated intravascular coagulation syndromes)
• Environmental & toxic causes

Diffuse alveolar haemorrhage due to vasculitis

Source: radiopaedia.org

Text prepared by Nikol Husáková (nikol.husakova@vfn.cz), based on following resources: 

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