PULMONARY ALVEOLAR PROTEINOSIS IN MYELODYSPLASTIC SYNDROME SECONDARY TO GATA-2 MUTATION (MONOMAC SYNDROME)

Abstract

SESSION TITLE: Medical Student/Resident Chest Infections Posters SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: October 18-21, 2020 INTRODUCTION: The majority of the cases of pulmonary alveolar proteinosis (PAP) occur in patients due to autoimmunity with the GM-CSF antibody. We present here a case of a 29-year-old female with GATA-2 mutation (monoMAC) syndrome who presented with dyspnea and was diagnosed with secondary PAP due to myelodysplastic syndrome. CASE PRESENTATION: A 29-year-old female presented to the hospital with the chief complaint of a nonproductive cough for 2 weeks associated with difficulty in breathing with exertion and intermittent fever. She had a history of heterozygous mutation for GATA-2 and was under treatment at a tertiary care center for early Myelodysplastic syndrome secondary to 9q34 deletion. Her medical history was extensive including Mycobacterium avium intracellulare (MAC) Pneumonia and bacteremia diagnosed 8 months before the presentation and was on azithromycin, ethambutol, and rifabutin for it to complete a total of 12 months of treatment. On presentation, she was febrile at 103 degrees Fahrenheit, tachycardiac at 135 beats per minute and saturating 88% on room air. She was placed on 4 L of oxygen by nasal cannula. Labs showed a WBC count of 8.4 10*3/uL (normal 4.0 - 12.0 10*3/uL) with differential showing a low monocyte count at <1 % (normal 2-8 %). Computed Tomography angiogram was obtained which ruled out a pulmonary embolism but showed diffuse and bilateral alveolar and interstitial pulmonary opacification. She had an extensive infectious, autoimmune, metabolic and cardiovascular workup which was all negative. So, bronchoscopy with bronchoalveolar lavage was obtained which showed an exudative effusion with 84 Polymorphonuclear cells, 2 Lymphocytes, 8 Histiocytes, 6 Eosinophils. BAL fluid was negative for respiratory viral PCR, AFB, fungal culture and bacterial culture, galactomannan and Pneumocystis culture. Cytology was also negative for pathogens or malignant cells. Post-Bronchoscopy the patient’s respiratory status improved, and she was weaned off of the oxygen. Pulmonary function tests (PFT) were also obtained there which revealed a non-specific ventilatory defect with decreased Diffusion lung capacity for Carbon monoxide (DLCO). A lung biopsy was obtained there confirming the diagnosis of pulmonary alveolar proteinosis (PAP). The patient had negative anti-GM-CSF antibodies indicating GATA-2 deficiency as the cause of PAP. The patient is scheduled to get a repeat full lung bronchoalveolar lavage and is currently being evaluated for a lung transplant. DISCUSSION: GATA-2 mutation is identified in cases of PAP secondary to hematological malignancies. Whole lung lavage is the standard of care. Treatment of the hematological malignancy may treat the PAP. There is no evidence of corticosteroids in the treatment of secondary PAP. CONCLUSIONS: Clinicians should be mindful of PAP in treating patients with hematological malignancies with respiratory distress. Reference #1: Ishii H, Seymour JF, Tazawa R, Inoue Y, Uchida N, Nishida A, et al. Secondary pulmonary alveolar proteinosis complicating myelodysplastic syndrome results in worsening of prognosis: a retrospective cohort study in Japan. BMC Pulm Med. 2014;14:37. Reference #2: Seymour JF, Presneill JJ. Pulmonary alveolar proteinosis: progress in the first 44 years. Am J Respir Crit Care Med 2002; 166: 215–235. Reference #3: Milleron BJ, Costabel U, Teschler H, et al. Bronchoalveolar lavage cell data in alveolar proteinosis. Am Rev Respir Dis 1991; 144: 1330–1332. DISCLOSURES: No relevant relationships by Fazal Raziq, source=Web Response No relevant relationships by Muhammad Usama, source=Web Response