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Clinical manifestations and etiology of pulmonary alveolar proteinosis in adults

Authors
Edward D Chan, MD
Talmadge E King, Jr, MD
Section Editor
Kevin R Flaherty, MD, MS
Deputy Editor
Helen Hollingsworth, MD

INTRODUCTION

Pulmonary alveolar proteinosis (PAP), also known as pulmonary alveolar phospholipoproteinosis, is a diffuse lung disease characterized by the accumulation of amorphous, periodic acid-Schiff (PAS)-positive lipoproteinaceous material in the distal air spaces [1-3]. There is little or no lung inflammation, and the underlying lung architecture is preserved. The lipoproteinaceous material is composed principally of the phospholipid surfactant and surfactant apoproteins.

The etiology, pathogenesis, and clinical manifestations of PAP in adults will be reviewed here. The presentation and management of PAP in children and the diagnosis, treatment, and prognosis of PAP in adults are discussed separately. (See "Pulmonary alveolar proteinosis in children" and "Diagnosis and treatment of pulmonary alveolar proteinosis in adults".)

ETIOLOGY AND PATHOGENESIS

Three forms of PAP are recognized: congenital, secondary, and acquired (table 1) [3,4]:

The congenital form often presents in the neonatal period and is likely related to mutations in the genes for surfactant, the granulocyte macrophage-colony stimulating factor (GM-CSF) receptor, or a defect in the plasma membrane transport of cationic amino acids (known as lysinuric protein intolerance). (See "Pulmonary alveolar proteinosis in children".)

The acquired form of PAP is the most common; it is associated with a high prevalence of anti-GM-CSF antibodies that are believed to contribute to macrophage dysfunction and impaired processing of surfactant.

             

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Literature review current through: Nov 2016. | This topic last updated: Thu Dec 31 00:00:00 GMT+00:00 2015.
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