SESSION TITLE: Miscellaneous Case Report Posters I
SESSION TYPE: Affiliate Case Report Poster
PRESENTED ON: Tuesday, October 28, 2014 at 01:30 PM - 02:30 PM
INTRODUCTION: Pulmonary Alveolar Proteinosis (PAP) causes surfactant protein deposits in the alveoli leading to impaired oxygenation and diffuse radiographic changes. Here we report monoMAC as a rare cause of alveolar proteinosis.
CASE PRESENTATION: 33 year old male presented with progressive dyspnea associated with productive cough over 6 months, underwent multiple diagnostic procedures and failed antibiotic therapy. Significant past medical history are pulmonary Aspergillosis, disseminated nocardia, disseminated HPV and 2 year history of monoMAC syndrome. On examination: tachypneic, O2Sat 91% on 3 Lpm O2 , diffuse crackles bilaterally, clubbing of fingers and toes. Chest radiograph showed bilateral infiltrates .CT chest revealed diffuse crazy paving.Transbronchial biopsy showed degenerating PAS and PAS-D positive material with cholesterol clefts.The patient underwent a right whole lung lavage with improvement in exercise tolerance and oxygen requirements with a left lung lavage planned for the future weeks.
DISCUSSION: PAP is a rare disease resulting from accumulation of surfactant proteins within the alveolar spaces .It is classified into idiopathic and secondary. Approximately 33% of patients are asympomatic,whereas others present with dyspnea,dry cough,fever,malaise and respiratory failure with restrictive physiology .Characterstic feature of CT scan is “crazy paving” appearance in geographic distribution.Indications of whole lung lavage include pathologic diagnosis of PAP either transbronchial lung biopsy or open lung biopsy ,severe dyspnea or hypoxemia or PaO2 at sea level of <65 mm Hg ,and A-a gradient ≥ 40 mm Hg or a shunt fraction >10-12%.MonoMac syndrome is rare immunodeficiency syndrome associated with PAP over the course of their illness. This syndrome is associated with GATA-2 mutation and characterized by profound circulating monocytopenia, B cell lymphopenia .Patients are susceptible to disseminated Nontubeculous Mycobacterial infection, disseminated HPV, and fungal infections.
CONCLUSIONS: MonoMac Syndrome should be considered as an etiology of secondary PAPin the setting of monocytopenia and multiple opportunistic infections.
Reference #1: Pulmonary alveolar proteinosis: progress in the first 44 years,Seymour et al,Am J Respir Crit Care Med. 2002 Jul 15;166(2)
Reference #2: Whole-lung lavage for pulmonary alveolar proteinosis,Michaud et al,Chest,2009 Dec;136(6)
Reference #3: Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses,and myelodysplasia;Vinh et al,Blood.2010 Feb 25
DISCLOSURE: The following authors have nothing to disclose: Badri Giri, Juan Sanchez
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