Idiopathic alveolar proteinosis. The common presentation of a rare disease

Proteinosis alveolar idiopática. La presentación común de una rara enfermedad

Pulmonary alveolar proteinosis (PAP) is a rare condition of unknown etiology that is characterized by an abnormal accumulation of lipoproteinaceus material within the alveoli. Today, three types of presentations have been identified (congenital, secondary and acquired) which have, as a common denominator, an extensive lung involvement. Primary alterations include a decrease in the clearance of surfactant or an increase in the production thereof, alterations involving genetic defects that alter the proteins that comprise the surfactant or the receptor of GM - CSF. The acquired presentation is characterized by the presence of anti – GM-CSF antibodies, thus highlighting the role of this substance in surfactant homeostasis. On this occasion, we present the case of a young female patient with lower respiratory symptoms, in whom, the low correlation between clinical appearance and extensive pulmonary parenchymal compromise is a remarkable feature.