Autopsy and Case Reports
https://autopsyandcasereports.org/article/doi/10.4322/acr.2021.382
Autopsy and Case Reports
Clinical Case Report

Pulmonary Alveolar Proteinosis due to Familial Myelodysplastic Syndrome with resolution after stem cell transplant

Amjad Basheer; Eduardo Messias Hirano Padrao; Kangwook Huh; Susan Parker; Tejal Shah; Daniel A. Gerardi

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Abstract

Pulmonary alveolar proteinosis (PAP) is a rare lung disease with an incidence of 0.2 cases per million. PAP has multiple causes, including autoimmune, hereditary, congenital, or secondary. The latter includes hematologic conditions and exposure to different kinds of dust. Most patients present fever, dyspnea, and cough. The chest computed tomography (CT) may reveal the crazy-paving polygonal shapes with superimposed ground glass opacities delimited by thickened interlobular septa; however, this finding is more prevalent in patients with autoimmune PAP. Bronchoalveolar lavage (BAL) shows a milky-opaque appearance with PAS-positive debris on cytology. Treatment is focused on the underlying disease; however, some patients may require whole lung lavage for symptomatic management. We report a case of a 30-year-old female with a history of familial myelodysplastic syndrome (MDS) with GATA 2 mutation who presented to the outpatient clinic with several months of progressive dyspnea and nonproductive cough. The chest CT revealed bilateral ground-glass opacities prominently in the upper lobes. She underwent a bronchoscopy with lavage and biopsy, which revealed fragments of lung parenchyma with intra-alveolar coarse granular eosinophilic material strongly positive for PAS and d-PAS. The overall clinical presentation and histologic findings were diagnostic of PAP. Her GM-CSF was negative, and due to her history of MDS, secondary PAP (S-PAP) was strongly suspected. She underwent a successful allogeneic bone marrow pluripotent stem cell transplant to treat the myelodysplastic syndrome, with a follow-up chest CT showing clear lung parenchyma. The patient had resolution of symptoms about four months after the bone marrow transplant, confirming the diagnosis of S-PAP.

Keywords

Pulmonary alveolar proteinosis, Stem cell transplantation, GATA2 deficiency, Myelodysplastic Syndromes, Bronchoalveolar Lavaga

References

1 Rosen SH, Castleman B, Liebow AA, Enzinger FM, Hunt RTN. Pulmonary alveolar proteinosis. N Engl J Med. 1958;258(23):1123-42. http://dx.doi.org/10.1056/NEJM195806052582301. PMid:13552931.

2 Carey B, Trapnell BC. The molecular basis of pulmonary alveolar proteinosis. Clin Immunol. 2010;135(2):223-35. http://dx.doi.org/10.1016/j.clim.2010.02.017. PMid:20338813.

3 Kumar A, Abdelmalak B, Inoue Y, Culver DA. Pulmonary alveolar proteinosis in adults: pathophysiology and clinical approach. Lancet Respir Med. 2018;6(7):554-65. http://dx.doi.org/10.1016/S2213-2600(18)30043-2. PMid:29397349.

4 Spinner MA, Sanchez LA, Hsu AP, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123(6):809-21. http://dx.doi.org/10.1182/blood-2013-07-515528. PMid:24227816.

5 Ishii H, Seymour JF, Tazawa R, 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(1):37. http://dx.doi.org/10.1186/1471-2466-14-37. PMid:24597668.

6 Goldstein LS, Kavuru MS, Curtis-McCarthy P, Christie HA, Farver C, Stoller JK. Pulmonary alveolar proteinosis: clinical features and outcomes. Chest. 1998;114(5):1357-62. http://dx.doi.org/10.1378/chest.114.5.1357. PMid:9824014.

7 Akira M, Inoue Y, Arai T, et al. Pulmonary fibrosis on high-resolution CT of patients with pulmonary alveolar proteinosis. AJR Am J Roentgenol. 2016;207(3):544-51. http://dx.doi.org/10.2214/AJR.15.14982. PMid:27548000.

8 Ishii H, Trapnell BC, Tazawa R, et al. Comparative study of high-resolution CT findings between autoimmune and secondary pulmonary alveolar proteinosis. Chest. 2009;136(5):1348-55. http://dx.doi.org/10.1378/chest.09-0097. PMid:19892674.

9 Suzuki T, Trapnell BC. Pulmonary alveolar proteinosis syndrome. Clin Chest Med. 2016;37(3):431-40. http://dx.doi.org/10.1016/j.ccm.2016.04.006. PMid:27514590.

10 Bonella F, Bauer PC, Griese M, Ohshimo S, Guzman J, Costabel U. Pulmonary alveolar proteinosis: new insights from a single-center cohort of 70 patients. Respir Med. 2011;105(12):1908-16. http://dx.doi.org/10.1016/j.rmed.2011.08.018. PMid:21900000.

11 Ishii H, Tazawa R, Kaneko C, et al. Clinical features of secondary pulmonary alveolar proteinosis: pre-mortem cases in Japan. Eur Respir J. 2011;37(2):465-8. http://dx.doi.org/10.1183/09031936.00092910. PMid:21282812.

12 Tabata S, Shimoji S, Murase K, et al. Successful allogeneic bone marrow transplantation for myelodysplastic syndrome complicated by severe pulmonary alveolar proteinosis. Int J Hematol. 2009;90(3):407-12. http://dx.doi.org/10.1007/s12185-009-0404-4. PMid:19693450.

13 Chaulagain CP, Pilichowska M, Brinckerhoff L, Tabba M, Erban JK. Secondary pulmonary alveolar proteinosis in hematologic malignancies. Hematol Oncol Stem Cell Ther. 2014;7(4):127-35. http://dx.doi.org/10.1016/j.hemonc.2014.09.003. PMid:25300566.

14 Cuellar-Rodriguez J, Gea-Banacloche J, Freeman AF, et al. Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. Blood. 2011;118(13):3715-20. http://dx.doi.org/10.1182/blood-2011-06-365049. PMid:21816832.

15 Ballerie A, Nimubona S, Meunier C, et al. Association of pulmonary alveolar proteinosis and fibrosis: patient with GATA2 deficiency. Eur Respir J. 2016;48(5):1510-4. http://dx.doi.org/10.1183/13993003.00252-2016. PMid:27799394.

16 Seymour JF, Presneill JJ. Pulmonary alveolar proteinosis: progress in the first 44 years. Am J Respir Crit Care Med. 2002;166(2):215-35. http://dx.doi.org/10.1164/rccm.2109105. PMid:12119235.
 


Submitted date:
03/05/2022

Accepted date:
04/18/2022

Publication date:
05/13/2022

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