Pulmonary alveolar proteinosis

• Published in: European respiratory review Vol. 20; no. 120; pp. 98 - 107
• Main Authors: Borie, R, Danel, C, Debray, M-P, Taille, C, Dombret, M-C, Aubier, M, Epaud, R, Crestani, B
• Format: Journal Article
• Language: English
• Published: England European Respiratory Society 01.06.2011
• Subjects: Autoimmunity; Biopsy; Bronchoalveolar Lavage Fluid - chemistry; Bronchoalveolar Lavage Fluid - immunology; Genetic Predisposition to Disease; Granulocyte macrophage-colony stimulating factor; Granulocyte-Macrophage Colony-Stimulating Factor - genetics; Humans; Immunotherapy; macrophage; Mutation; Plasmapheresis; Predictive Value of Tests; Pulmonary Alveolar Proteinosis - diagnosis; Pulmonary Alveolar Proteinosis - epidemiology; Pulmonary Alveolar Proteinosis - genetics; Pulmonary Alveolar Proteinosis - immunology; Pulmonary Alveolar Proteinosis - physiopathology; Pulmonary Alveolar Proteinosis - therapy; pulmonary lavage; Pulmonary Surfactant-Associated Proteins - genetics; Rare Diseases; Respiratory Function Tests; Review; Risk Factors; rituximab; surfactant; Therapeutic Irrigation; Tomography, X-Ray Computed; Treatment Outcome
• ISSN: 0905-9180; 1600-0617
• DOI: 10.1183/09059180.00001311

Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease characterised by alveolar accumulation of surfactant. It may result from mutations in surfactant proteins or granulocyte macrophage-colony stimulating factor (GM-CSF) receptor genes, it may be secondary to toxic inhalation or haematological disorders, or it may be auto-immune, with anti-GM-CSF antibodies blocking activation of alveolar macrophages. Auto-immune alveolar proteinosis is the most frequent form of PAP, representing 90% of cases. Although not specific, high-resolution computed tomography shows a characteristic "crazy paving" pattern. In most cases, bronchoalveolar lavage findings establish the diagnosis. Whole lung lavage is the most effective therapy, especially for auto-immune disease. Novel therapies targeting alveolar macrophages (recombinant GM-CSF therapy) or anti-GM-CSF antibodies (rituximab and plasmapheresis) are being investigated. Our knowledge of the pathophysiology of PAP has improved in the past 20 yrs, but therapy for PAP still needs improvement.