title: Pulmonary alveolar proteinosis.
abstract: 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.
authors.affiliation: Service de Pneumologie A, Centre de Compétences des Maladies Pulmonaires Rares, Paris, France.
authors.forename: R
authors.initials: R
authors.lastname: Borie
authors.forename: C
authors.initials: C
authors.lastname: Danel
authors.forename: M-P
authors.initials: MP
authors.lastname: Debray
authors.forename: C
authors.initials: C
authors.lastname: Taille
authors.forename: M-C
authors.initials: MC
authors.lastname: Dombret
authors.forename: M
authors.initials: M
authors.lastname: Aubier
authors.forename: R
authors.initials: R
authors.lastname: Epaud
authors.forename: B
authors.initials: B
authors.lastname: Crestani
mesh_terms: D015551:Autoimmunity; D001706:Biopsy; D001992:Bronchoalveolar Lavage Fluid / Q000737:chemistry / Q000276:immunology; D020022:Genetic Predisposition to Disease; D016178:Granulocyte-Macrophage Colony-Stimulating Factor / Q000235:genetics; D006801:Humans; D007167:Immunotherapy; D009154:Mutation; D010956:Plasmapheresis; D011237:Predictive Value of Tests; D011649:Pulmonary Alveolar Proteinosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000276:immunology / Q000503:physiopathology / Q000628:therapy; D037661:Pulmonary Surfactant-Associated Proteins / Q000235:genetics; D035583:Rare Diseases; D012129:Respiratory Function Tests; D012307:Risk Factors; D007507:Therapeutic Irrigation; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: D037661:Pulmonary Surfactant-Associated Proteins; D016178:Granulocyte-Macrophage Colony-Stimulating Factor