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alveolar proteinosis

Monday 7 March 2005

Digital cases

- Case 87 (HPC:87)

Definition: Pulmonary alveolar proteinosis (PAP) is a rare cause of chronic interstitial lung disease in children characterised by accumulation of a lipoproteinaceous material in the alveoli.

Acquired pulmonary alveolar proteinosis (PAP) is a syndrome characterized by pulmonary surfactant accumulation occurring in association with granulocyte/macrophage colony-stimulating factor autoantibodies (autoimmune PAP) or as a consequence of another disease (secondary PAP).

Synopsis

- Bronchoalveolar lavage

  • milky appearance of the return fluid
  • periodic acid-Schiff staining material in the alveolar macrophages
  • homogeneous, granular material typical of PAP.

Ultrastructure

The material is composed of extracellular, multilamellated bodies when viewed by electron microscopy.

Etiology

- genetic primary PAP

  • SFTPB mutations with SP-B deficiency (early-onset PAP) (8163685)
  • SFTPC mutations with SP-C deficiency (MIM.178620) at 8p21
  • ABCA3 mutations with neonatal surfactant deficiency
  • CSF2RB mutations (GM-CSF receptor ß subunit) (MIM.138981)
  • TTF1 (TITF-1) gene mutation (MIM.600635) (15517377)
  • CSF2RB mutations (GM-CSF/IL-3/IL-5 receptor common beta chain) (9694696)

- acquired pulmonary alveolar proteinosis (PAP)

- secondary PAP (associated PAP)

  • pulmonary infections
    • Pneumocystis carinii
    • Nocardia asteroides
    • Histoplasma sp.

Associations

- busulfan lung (2316373)
- end-stage pulmonary fibrosis
- malignant mesothelioma (15838000)
- disseminated atypical mycobacteriosis (2316373)

  • disseminated Mycobacterium kansasii infection (14587059)

- cytomegalovirus infection (218518)
- human parainfluenza virus giant cell pneumonia (12562244)
- sporadic associations

Animal model

- development of PAP in

  • GM-CSF knock-out mice / (GM-CSF)(-/-) mice
  • GM-CSF receptor knock-out mice

References

- de Blic J. Pulmonary alveolar proteinosis in children. Paediatr Respir Rev. 2004 Dec;5(4):316-22. PMID: 15531257

- Trapnell BC, Whitsett JA, Nakata K. Pulmonary alveolar proteinosis. N Engl J Med. 2003 Dec 25;349(26):2527-39. PMID: 14695413

- Yousem SA. Alveolar lipoproteinosis in lung allograft recipients. Hum Pathol. 1997 Dec;28(12):1383-6. PMID: 9416695

- Bedrossian CW, Luna MA, Conklin RH, Miller WC. Alveolar proteinosis as a consequence of immunosuppression. A hypothesis based on clinical and pathologic observations. Hum Pathol. 1980 Sep;11(5 Suppl):527-35. PMID: 7429503

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