Association of pulmonary alveolar proteinosis and fibrosis: patient with GATA2 deficiency. Issue 5 (20th October 2016) - Ballerie, Alice
Pulmonary alveolar proteinosis (PAP) is a rare syndrome characterised by an abnormal accumulation of surfactant proteins in pulmonary alveoli which impairs gas exchange [1]. PAP is classified into three groups: autoimmune PAP (aPAP), defined by the presence of anti-granulocyte-macrophage colony-stimulating factor (GM-CSF) autoantibodies, secondary PAP (sPAP) and genetic PAP. Haematological diseases are the most common causes of sPAP, particularly myelodysplastic syndrome (MDS) [1, 2]. The diagnosis of PAP is based on a chest computed tomography (CT) scan, which demonstrates a crazy-paving pattern, and a typical positive periodic acid–Schiff (PAS) staining of bronchoalveolar lavage (BAL) [3]. Nowadays, a surgical lung biopsy is seldom needed to diagnose PAP, except for atypical presentation as in the case described below with concomitant pulmonary fibrosis and sPAP in a patient with GATA2 (GATA binding protein 2) deficiency. Lymphoedema, myelodysplasia, fibrosis and pulmonary alveolar proteinosis complicating a novel GATA2 mutation http://ow.ly/RHci303h8ks