Pulmonary Alveolar Proteinosis (PAP) poses diagnostic challenges due to its rarity, heterogeneous presentation and similarity to other lung diseases. Despite advances in diagnostic techniques, several limitations persist, hindering accurate and timely diagnosis. This review explores the diagnostic challenges in PAP, including clinical presentation variability, imaging findings, bronchoalveolar lavage and emerging biomarkers. It examines recent advances in diagnostic approaches while discussing existing limitations, aiming to provide insights into optimizing the diagnostic process for PAP. Pulmonary alveolar proteinosis (PAP) poses significant diagnostic challenges due to its rarity, heterogeneous clinical presentation and resemblance to other lung diseases. Despite recent advancements in diagnostic techniques, including imaging modalities and biomarkers, several diagnostic pitfalls persist, leading to misdiagnosis or delayed diagnosis. This review explores the diagnostic challenges encountered in PAP, synthesizing recent advances and limitations. By examining current knowledge, it aims to provide insights to guide clinicians in navigating the complexities of diagnosing PAP effectively, ultimately improving patient care outcomes and enhancing understanding of this complex pulmonary disorder.
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