Pulmonary alveolar proteinosis

Czech version

Authors: B. Hutyrová
Authors‘ workplace: Klinika plicních nemocí a tuberkulózy Lékařské fakulty UP a FN Olomouc, přednosta prof. MUDr. Vítězslav Kolek, DrSc.
Published in: Vnitř Lék 2007; 53(10): 1077-1084
Category: Reviews

Overview

Pulmonary alveolar proteinosis is a rare disease characterised by excessive accumulation of surfactant components in the alveoli and the distal airways with minimum inflammatory reaction and fibrosis of pulmonary interstitium. Three clinical forms of pulmonary alveolar proteinosis are distinguished – congenital, primary and secondary. Results of ultrastructural, biochemical and functional analyses and studies performed on genetically modified mice support the presumption that accumulation of surfactant in pulmonary alveolar proteinosis is a result of a degradation disorder and of diminished clearance of the surfactant from the alveolar space rather than of excessive synthesis of surfactant components. Over the last 15 years, significant discoveries have been made which have helped to clarify the etiology and pathogenesis of the disease. A number of gene mutations have been discovered which lead to the development of congenital pulmonary proteinosis. Apart from impaired surfactant protein function, a key role in the development of pulmonary alveolar proteinosis is played by the signal pathway of granulocyte and macrophage colonies stimulating growth factor (GM-CSF) which is necessary for the functioning of alveolar macrophages and for surfactant homeostasis. The role of GM-CSF has been proven especially in primary pulmonary alveolar proteinosis which is currently considered an auto-immune disease involving the development of GM-CSF neutralising autoantibodies. In most cases, the prognosis for the disease in adult patients is good, even though there is a 10 to 15 % rate of patients who develop respiratory failure. Total pulmonary lavage is considered to be the standard method of treatment. In recent years, recombinant human GM-CSF has been studied as a prospective therapy for the treatment of pulmonary alveolar proteinosis.

Keywords:
pulmonary alveolar proteinosis – granulocyte and macrophage colony stimulating factor – autoantibodies – pulmonary lavage

Sources

1. Seymour JF, Presneill JJ. Pulmonary alveolar proteinosis. Progress in the first 44 years. Am J Respir Crit Care Med 2002; 166: 215-235.

2. Rosen SH, Castleman B, Liebow AA. Pulmonary alveolar proteinosis. N Engl J Med 1958; 258: 1123-1142.

3. Larson RK, Gordinier R. Pulmonary alveolar proteinosis: report of six cases, review of the literature, and formulation of a new theory. Ann Intern Med 1965; 62: 292-312.

4. Jansa P, Stříteský M, Homolka J. Plicní alveolární proteinóza a její léčba celkovou plicní laváží v ČR. Vnitř Lék 2002; 48: 34-37.

5. Costabel U, Guzman J. Pulmonary alveolar proteinosis: a new autoimmune disease. Sarcoidosis Vasc Diffuse Lung Dis 2005; 22(Suppl 1): 67-73.

6. Hartl D, Griese M. Interstitial lung disease in children - genetic background and associated phenotypes. Respir Res 2005; 6: 32.

7. Nogee LM, Garnier G, Dietz HC et al. A Mutation in the surfactant protein-B gene responsible for fatal neonatal respiratory-disease in multiple kindreds. J Clin Invest 1994; 93: 1860-1863.

8. Cole FS, Hamvas A, Rubinstein P et al. Population-based estimates of surfactant protein B deficiency. Pediatrics 2000; 105: 538-541.

9. Stevens PA, Pettenazzo A, Brasch F et al. Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. Pediatr Res 2006; 57: 89-98.

10. Dirksen U, Nishinakamura R, Groneck P et al. Human pulmonary alveolar proteinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common beta chain expression. J Clin Invest 1997; 100: 2211-2217.

11. Shulenin S, Nogee LM, Annilo T et al. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 2004; 350: 1296-1303.

12. Trapnell BC, Whitsett JA, Nakata K. Pulmonary alveolar proteinosis. N Engl J Med 2003; 349: 2527-2539.

13. Cheng SL, Kuo PH, Yang PCh et al. Bilateral alveolar infiltrates in a 29-year-old man with chronic myelogenous leukemia. Chest 2002; 122: 2238-2241.

14. Akin MR, Nguyen GK. Pulmonary alveolar proteinosis. Pathol Res Pract 2004; 200: 693-698.

15. Olivieri D, du Bois RM. Interstitial lung diseases. European Respiratory Monograph 2000; 5: 194-205.

16. Seyfikli Z, Gonluugur U, Berk S et al. Primary alveolar proteinosis and review of the literature. Turk Resp J 2001; 2: 36-39.

17. Buechner HA, Ansari A. Acute silico-proteinosis: a new pathologic variant of acute silicosis in sandblasters, characterized by histologic features resembling alveolar proteinosis. Dis Chest 1969; 55: 274-284.

18. McManus DT, Moore R, Hill CM et al. Necropsy findings in lysinuric protein intolerance. J Clin Pathol 1996; 49: 345-347.

19. Steens RD, Summers QA, Tarala RA. Pulmonary alveolar proteinosis in association with Fanconi’s anemia and psoriasis. A possible common pathogenetic mechanism. Chest 1992; 102: 637-638.

20. Pedroso SL, Martins LS, Sousa S et al. Pulmonary alveolar proteinosis: a rare pulmonary toxicity of sirolimus. Transp Int 2007; 20: 291-296.

21. Wardwell NR jr, Miller R, Ware LB. Pulmonary alveolar proteinosis associated with a disease-modifying antirheumatoid arthritis drug. Respirology 2006; 11: 663-665.

22. Wagner U, Staats P, Moll R et al. Imatinib-associated pulmonary alveolar proteinosis.

Am J Med 2003; 115: 674.

23. Du EZ, Yung GL, Le DT et al. Severe alveolar proteinosis following chemotherapy for acute myeloid leukemia in a lung allograft recipient. J Thorac Imaging 2001; 16: 307-309.

24. Sulkowski S, Sulkowska M. Alveolar cells in cyclophosphamide-induced lung injury. II. Pathogenesis of experimental endogenous lipid pneumonia. Histol Histopathol 1999; 14: 1145-1152.

25. Hruban Z. Pulmonary and generalized lysosomal storage induced by amphiphilic drugs. Environ Health Perspect 1984; 55: 53-76.

26. Hook GE. Alveolar proteinosis and phospholipidoses of the lungs. Toxicol Pathol 1991; 19: 483-513.

27. Shah PL, Hansell D, Lawson PR et al. Pulmonary alveolar proteinosis: clinical aspects and current concepts on pathogenesis. Thorax 2000; 55: 67-77.

28. Stanley E, Lieschke GJ, Grail D et al. Granulocyte/macrophage colony-stimulating factor-deficient mice show no major perturbation of hematopoiesis but develop a characteristic pulmonary pathology. Proc Natl Acad Sci USA 1994; 91: 5592-5596.

29. Bonfield TL, Raychaudhuri B, Malur A et al. PU.1 regulation of human alveolar macrophage differentiation requires granulocyte-macrophage colony-stimulating factor.

Am J Physiol Lung Cell Mol Physiol 2003; 285: L1132-L1136.

30. Huffman JA, Hull WM, Dranoff G et al. Pulmonary epithelial cell expression of GM-CSF corrects the alveolar proteinosis in GM-CSF-deficient mice. J Clin Invest 1996; 97: 649-655.

31. Nishinakamura R, Wiler R, Dirksen U et al. The pulmonary alveolar proteinosis in granulocyte macrophage colony-stimulating factor/interleukins 3/5 beta c receptor-deficient mice is reversed by bone marrow transplantation. J Exp Med 1996; 183: 2657-2662.

32. Reed JA, Ikegami M, Cianciolo ER et al. Aerosolized GM-CSF ameliorates pulmonary alveolar proteinosis in GM-CSF-deficient mice. Am J Physiol 1999; 276: L556-L563.

33. LeVine AM, Reed JA, Kurak KE et al. GM-CSF-deficient mice are susceptible to pulmonary group B streptococcal infection. J Clin Invest 1999; 103: 563-569.

34. Paine III R, Preston AM, Wilcoxen S et al. Granulocyte-macrophage colony-stimulating factor in the innate immune response to Pneumocystis carinii pneumonia in mice. J Immunol 2000; 164: 2602-2609.

35. Kitamura T, Tanaka N, Watanabe J et al. Idiopathic pulmonary alveolar proteinosis as an autoimmune disease with neutralizing antibody against granulocyte/macrophage colony-stimulating factor. J Exp Med 1999; 190: 875-880.

36. Carraway MS, Ghio AJ, Carter JD et al. Detection of granulocyte-macrophage colony-stimulating factor in patients with pulmonary alveolar proteinosis. Am J Respir Crit Care Med 2000; 161: 1294-1299.

37. Brasch F, Birzele J, Ochs M et al. Surfactant proteins in pulmonary alveolar proteinosis in adults. Eur Respir J 2004; 24: 426-435.

38. Russi EW, Boehler A. Pulmonary alveolar proteinosis. Orphanet encyclopedia 2004. http://www.orpha.net/data/patho/GB/uk-pap.pdf

39. Homolka J, Votava V. Intersticiální plicní procesy. 1. ed. Praha: Maxdorf 1999: 119-123.

40. Martin RJ, Rogers RM, Myers MN. Pulmonary alveolar proteinosis: shunt fraction and lactic acid dehydrogenase concentration as aids to diagnosis. Am Rev Respir Dis 1978; 117: 1059-1062.

41. Nakajima M, Manabe T, Niki Y et al. Serum KL-6 level as a monitoring marker in a patient with pulmonary alveolar proteinosis. Thorax 1998; 53: 809-811.

42. Nara M, Sano K, Ogawa H et al. Serum antibody against granulocyte/macrophage colony-stimulating factor and KL-6 in idiopathic pulmonary alveolar proteinosis. Tohoku J Exp Med 2006; 208: 349-354.

43. Venkateshiah SB, Yan TD, Bonfield TL et al. An open-label trial of granulocyte macrophage colony stimulating factor therapy for moderate symptomatic pulmonary alveolar proteinosis. Chest 2006; 130: 227-237.

44. Lin FC, Chang GD, Chern MS et al. Clinical significance of anti-GM-CSF antibodies in idiopathic pulmonary alveolar proteinosis. Thorax 2006; 61: 528-534.

45. Klech HH, Hutter C. Clinical guidelines and indications for bronchoalveolar lavage (BAL): Report of the European Society of Pneumology Task Group on BAL. Eur Respir J 1990; 3: 937-974.

46. Wang BM, Stern EJ, Schmidt RA et al. Diagnosing pulmonary alveolar proteinosis: a review and an update. Chest 1997; 111: 460-466.

47. Mikami T, Yamamoto Y, Yokoyama M et al. Pulmonary alveolar proteinosis: diagnosis using routinely processed smears of bronchoalveolar lavage fluid. J Clin Pathol 1997; 50: 981-984.

48. Chang SC, Lin FC, Chen YC. Inflammatory markers in bronchoalveolar lavage fluid of patients with idiopathic pulmonary alveolar proteinosis. Chest 2005; 128(Suppl 4): 169.

49. Hashizume T. Pulmonary alveolar proteinosis successfully treated with ambroxol.

Intern Med 2002; 41: 1175-1178.

50. Jay SJ. Pulmonary alveolar proteinosis: successful treatment with aerosolized trypsin.

Am J Med 1979; 66: 348-354.

51. Ramirez J, Schultz RB, Dutton RE. Pulmonary alveolar proteinosis: A new technique and rationale for treatment. Arch Intern Med 1963; 112: 419-431.

52. Hoffmann RM, Dauber JM, Rogers RM. Improvement in alveolar macrophage migration after therapeutic whole lung lavage in pulmonary alveolar proteinosis. Am Rev Respir Dis 1989; 139: 1030-1032.

53. Kavuru MS. Therapeutic whole lung lavage. Chest 2002; 122: 1123-1124.

54. Homolka J, Jansa P, Stříteský M et al. První úspěšná léčebná plicní laváž u plicní alveolární proteinózy v České republice. Čas Lék Čes 2001; 140: 406-408.

55. Beccaria M, Luisetti M, Rodi G et al. Long-term durable benefit after whole lung lavage in pulmonary alveolar proteinosis. Eur Respir J 2004; 23: 526-531.

56. Jansen HM, Zuurmond WW, Roos CM et al. Whole-lung lavage under hyperbaric oxygen conditions for alveolar proteinosis with respiratory failure. Chest 1987; 91: 829-832.

57. Cheng SL, Chang HT, Lau HP et al. Pulmonary alveolar proteinosis: treatment by bronchofiberscopic lobar lavage. Chest 2002; 122: 1480-1485.

58. Seymour JF, Presneill JJ, Schoch OD et al. Therapeutic efficacy of granulocyte-macrophage colony-stimulating factor in patients with idiopathic acquired alveolar proteinosis. Am J Respir Crit Care Med 2001; 163: 524-531.

59. Kavuru MS, Sullivan EJ, Piccin R. Exogenous granulocyte-macrophage colony-stimulating factor administration for pulmonary alveolar proteinosis. Am J Respir Crit Care Med 2000; 161: 1143-1148.

60. Wylam ME, Ten R, Prakash UBS et al. Aerosol granulocyte-macrophage colony-stimulating factor for pulmonary alveolar proteinosis. Eur Respir J 2006; 27: 585-593.

61. Parker LA, Novotny DB. Recurrent alveolar proteinosis following double lung transplantation. Chest 1997; 111: 1457-1458.