Современный взгляд на лимфангиолейомиоматоз: этиология, патогенез, клиника, диагностика и лечение

1. Meraj R, Wikenheiser-Brokamp KA, Young LR et al. Lymphangioleiomyomatosis: new concepts in pathogenesis, diagnosis, and treatment. Semin Respir Crit Care Med 2012; 33: 486–97.
2. Ando K, Tobino K, Kurihara M et al. Quantitative CT analysis of small pulmonary vessels in lymphangioleiomyomatosis. Eur J Radiol 2012; 81: 3925–30.
3. Johnson SR, Cordier JF, Lazor R et al. European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis. Eur Respir J 2010; 35: 14–26.
4. McCormack FX. Lymphangioleiomyomatosis: a clinical update. Chest 2008; 133: 507.
5. Taylor JR, Ryu J, Colby TV et al. Lymphangioleiomyomatosis. Clinical course in 32 patients. N Engl J Med 1990; 323: 1254–60.
6. Kitaichi M, Nishimura K, Itoh H et al. Pulmonary lymphangioleiomyomatosis: a report of 46 patients including a clinicopathologic study of prognostic factors. Am J Respir Crit Care Med 1995; 151: 527–33.
7. Urban T, Lazor R, Lacronique J et al. Pulmonary lymphangioleiomyomatosis. A study of 69 patients. Groupe d’Etudes et de Recherche sur les Maladies “Orphelines” Pulmonaires (GERM”O”P). Medicine (Baltimore) 1999; 78: 321–37.
8. Sieker HO, Jr McCarty KS. Lymphangiomyomatosis: a respiratory illness with an endocrinologic therapy. Trans Am Clin Climatol Assoc 1987; 99: 57–67.
9. Franz DN, Brody A, Meyer C et al: Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med 2001; 164: 661–8.
10. Costello LC, Hartman TE, Ryu JH. High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex. Mayo Clin Proc 2000; 75: 591–4.
11. Moss J, Avila NA, Barnes PM et al. Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex. Am J Respir Crit Care Med 2001; 164: 669–71.
12. Astrinidis A, Henske EP. Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease. Oncogene 2005; 24: 7475–81.
13. Cornog JL Jr, Enterline HT. Lymphangiomyoma, a benign lesion of chyliferous lymphatics synonymous with lymphangiopericytoma. Cancer 1966; 19: 1909–30.
14. Stovin PG, Lum LC, Flower CD et al: The lungs in lymphangiomyomatosis and in tuberous sclerosis. Thorax 1975; 30: 497–509.
15. Kwiatkowski DJ, Reeve MP, Cheadle JP, Sampson JR. Molecular Genetics. In: Nuberous Sclerosis complex: from Basic Science to Clinical Phenotypes. Ed: P.Curatolo. London: Mac Keith Press, 2003; p. 228–63.
16. Astrinidis A, Khare L, Carsillo T et al. Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis. J Med Genet 2000; 37: 55–7.
17. Franz DN, Brody A, Meyer C et al. Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med 2001; 164: 661–8.
18. Jones AC, Shyamsundar MM, Thomas MW et al. Comprehensive mutation analysis of TSC1 and TSC2 and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999; 64: 1305–15.
19. Harari S et al. Lymphangioleiomyomatosis: what do we know and what are we looking for? Eur Respir Rev 2011; 20 (119): 34.
20. Juvet SC, McCormack FX, Kwiatkowski DJ et al. Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. Am J Respir Cell Mol Biol 2007; 36: 398–408.
21. Taveira-DaSilva AM, Moss J. Progress in the treatment of lymphangioleiomyomatosis: from bench to bedside. Rev Port Pneumol 2012; 18: 142–4.
22. Taylor JR, Ryu J, Colby TV et al: Lymphangioleiomyomatosis. Clinical course in 32 patients. N Engl J Med 1990; 323: 1254–60.
23. Kim NR, Chung MP, Park CK et al. Pulmonary lymphangioleiomyomatosis and multiple hepatic angiomyolipomas in a man. Pathol Int 2003; 53: 231–5.
24. Cudzilo CJ, Szczesniak RD, Brody AS et al. Lymphangioleiomyomatosis screening in women with tuberous sclerosis. Chest 2013.
25. Johnson SR, Tattersfield AE. Clinical experience of lymphangioleiomyomatosis in the UK. Thorax 2000; 55: 1052–7.
26. Almoosa KF, Ryu JH, Mendez J et al. Management of pneumothorax in lymphangioleiomyomatosis: effects on recurrence and lung transplantation complications. Chest 2006; 129: 1274–81.
27. Moua T, Olson EJ, St Jean HC et al. Resolution of chylous pulmonarycongestion and respiratory failure in lymphangioleiomyomatosis with sirolimus therapy. Am J Respir Crit Care Med 2012; 186: 389–90.
28. Chu SC, Horiba K, Usuki J et al. Comprehensive evaluation of 35 patients with lymphangioleiomyomatosis. Chest 1999; 115: 1041–52.
29. Sullivan EJ. Lymphangioleiomyomatosis: a review. Chest 1998; 114: 1689–703.
30. Young LR, Vandyke R, Gulleman PM et al. Serum vascular endothelial growth factor-d prospectively distinguishes lymphangioleiomyomatosis from other diseases. Chest 2010; 138: 674–81.
31. Jr Guinee DG, Feuerstein I, Koss MN et al. Pulmonary lymphangioleiomyomatosis. Diagnosis based on results of transbronchial biopsy and immunohistochemical studies and correlation with highresolution computed tomography findings. Arch Pathol Lab Med 1994; 118: 846–9.
32. Meraj R, Wikenheiser-Brokamp KA, Young LR et al. Utility of transbronchial biopsy in the diagnosis of lymphangioleiomyomatosis. Front Med 2012; 6: 395–405.
33. Harari S, Torre O, Cassandro R et al. Bronchoscopic diagnosis of Langerhans cell histiocytosis and lymphangioleiomyomatosis. Respir Med 2012; 106: 1286–92.
34. Ye L, Jin M, Bai C. Clinical analysis of patients with pulmonary lymphangioleiomyomatosis (PLAM) in mainland china. Respir Med 2010; 104: 1521–6.
35. Hughes E, Hodder RV. Pulmonary lymphangiomyomatosis complicating pregnancy. A case report. J Reprod Med 1987; 32: 553–7.
36. Yockey CC, Riepe RE, Ryan K. Pulmonary lymphangioleiomyomatosis complicated by pregnancy. Kans Med 1986; 87: 277–8, 293.
37. Sleiman C, Mal H, Jebrak G et al. Pulmonary lymphangiomyomatosis treated by single lung transplantation. Am Rev Respir Dis 1992; 145: 964–6.
38. Kerr LA, Blute ML, Ryu JH et al. Renal angiomyolipoma in association with pulmonary lymphangioleiomyomatosis: forme fruste of tuberous sclerosis? Urology 1993; 41: 440–4.
39. Johnson SR, Tattersfield AE. Pregnancy in lymphangioleiomyomatosis. Am J Respir Crit Care Med 1998; 157: A807.
40. Johnson SR, Tattersfield AE. Clinical experience of lymphangioleiomyomatosis in the UK. Thorax 2000; 55: 1052–7.
41. Shen A, Iseman MD, Waldron JA et al: Exacerbation of pulmonary lymphangioleiomyomatosis by exogenous estrogens. Chest 1987; 91: 782–5.
42. Kim NR, Chung MP, Park CK et al. Pulmonary lymphangioleiomyomatosis and multiple hepatic angiomyolipomas in a man. Pathol Int 2003; 53: 231–5.
43. Juvet SC, McCormack FX, Kwiatkowski DJ et al. Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. Am J Respir Cell Mol Biol 2007; 36: 398–408.
44. Cordier JF, Johnson SR. Orphan Lung Diseases. Ed. By J.F.Cordier. Eur Respir Mon 2011; 54: 46–83
45. Taveira-DaSilva AM, Hathaway O, Stylianou M et al. Changes in lung function andchylous effusions in patients with lymphangioleiomyomatosis treated with sirolimus. Ann Intern Med 2011; 154: 797–805, W-292–3.
46. Katsutoshi A, Masatoshi K, Hideyuki K et al. The efficacy andsafetyoflow-dosesirolimusfor treatment oflymphangioleiomyomatosis. Respir Investig 2013; 51: 175–83.
47. Nine JS, Yousem SA, Paradis IL et al. Lymphangioleiomyomatosis: recurrence after lung transplantation. J Heart Lung Transplant 1994; 13: 714–9.
48. O’Brien JD, Lium JH, Parosa JF et al. Lymphangioleiomyomatosis recurrence in the allograft after single lung transplantation. Am J Respir Crit Care 1995; 151: 2033–6.
49. Bittmann I, Rolf B, Amann G et al. Recurrence of lymphangioleiomyomatosis after single lung transplantation: new insights into pathogenesis. Hum Pathol 2003; 34: 95–8.
50. Karbowniczek M, Astrinidis A, Balsara BR et al. Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. Am J Respir Crit Care Med 2003; 167: 976–82.
51. Orens JB, Estenne M, Arcasoy S et al. International guidelines for the selection of lung transplant candidates: 2006 update – a consensus report from the Pulmonary Scientific Council of the International Society for Heart and Lung Transplantation. J Heart Lung Transplant 2006; 25: 745–55.
52. Taveira-DaSilva AM, Steagall WK, Moss J. Lymphangioleiomyomatosis. Cancer Control 2006; 13: 276–85.
53. Lazor R, Valeyre D, Lacronique J et al. Low initial KCO predicts rapid FEV1 decline in pulmonary lymphangioleiomyomatosis. Respir Med 2004; 98: 536–41.
54. Johnson SR, Tattersfield AE. Decline in lung function in lymphangioleiomyomatosis: relation to menopause and progesterone treatment. Am J Respir Crit Care Med 1999; 160: 628–33.
55. Hayashida M, Seyama K, Inoue Y et al. The epidemiology of lymphangioleiomyomatosis in Japan: a nationwide cross-sectional study of presenting features and prognostic factors. Respirology 2007; 12: 523–30.
56. Matsui K, Beasley MB, Nelson WK et al. Prognostic significance of pulmonary lymphangioleiomyomatosis histologic score. Am J Surg Pathol 2001; 25: 479–84.
57. Oprescu N, McCormack FX, Byrnes S et al. Clinical predictors of mortality and cause of death in lymphangioleiomyomatosis: a population-based registry. Lung 2013; 191: 35–42.

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1. Meraj R, Wikenheiser-Brokamp KA, Young LR et al. Lymphangioleiomyomatosis: new concepts in pathogenesis, diagnosis, and treatment. Semin Respir Crit Care Med 2012; 33: 486–97.
2. Ando K, Tobino K, Kurihara M et al. Quantitative CT analysis of small pulmonary vessels in lymphangioleiomyomatosis. Eur J Radiol 2012; 81: 3925–30.
3. Johnson SR, Cordier JF, Lazor R et al. European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis. Eur Respir J 2010; 35: 14–26.
4. McCormack FX. Lymphangioleiomyomatosis: a clinical update. Chest 2008; 133: 507.
5. Taylor JR, Ryu J, Colby TV et al. Lymphangioleiomyomatosis. Clinical course in 32 patients. N Engl J Med 1990; 323: 1254–60.
6. Kitaichi M, Nishimura K, Itoh H et al. Pulmonary lymphangioleiomyomatosis: a report of 46 patients including a clinicopathologic study of prognostic factors. Am J Respir Crit Care Med 1995; 151: 527–33.
7. Urban T, Lazor R, Lacronique J et al. Pulmonary lymphangioleiomyomatosis. A study of 69 patients. Groupe d’Etudes et de Recherche sur les Maladies “Orphelines” Pulmonaires (GERM”O”P). Medicine (Baltimore) 1999; 78: 321–37.
8. Sieker HO, Jr McCarty KS. Lymphangiomyomatosis: a respiratory illness with an endocrinologic therapy. Trans Am Clin Climatol Assoc 1987; 99: 57–67.
9. Franz DN, Brody A, Meyer C et al: Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med 2001; 164: 661–8.
10. Costello LC, Hartman TE, Ryu JH. High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex. Mayo Clin Proc 2000; 75: 591–4.
11. Moss J, Avila NA, Barnes PM et al. Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex. Am J Respir Crit Care Med 2001; 164: 669–71.
12. Astrinidis A, Henske EP. Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease. Oncogene 2005; 24: 7475–81.
13. Cornog JL Jr, Enterline HT. Lymphangiomyoma, a benign lesion of chyliferous lymphatics synonymous with lymphangiopericytoma. Cancer 1966; 19: 1909–30.
14. Stovin PG, Lum LC, Flower CD et al: The lungs in lymphangiomyomatosis and in tuberous sclerosis. Thorax 1975; 30: 497–509.
15. Kwiatkowski DJ, Reeve MP, Cheadle JP, Sampson JR. Molecular Genetics. In: Nuberous Sclerosis complex: from Basic Science to Clinical Phenotypes. Ed: P.Curatolo. London: Mac Keith Press, 2003; p. 228–63.
16. Astrinidis A, Khare L, Carsillo T et al. Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis. J Med Genet 2000; 37: 55–7.
17. Franz DN, Brody A, Meyer C et al. Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med 2001; 164: 661–8.
18. Jones AC, Shyamsundar MM, Thomas MW et al. Comprehensive mutation analysis of TSC1 and TSC2 and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999; 64: 1305–15.
19. Harari S et al. Lymphangioleiomyomatosis: what do we know and what are we looking for? Eur Respir Rev 2011; 20 (119): 34.
20. Juvet SC, McCormack FX, Kwiatkowski DJ et al. Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. Am J Respir Cell Mol Biol 2007; 36: 398–408.
21. Taveira-DaSilva AM, Moss J. Progress in the treatment of lymphangioleiomyomatosis: from bench to bedside. Rev Port Pneumol 2012; 18: 142–4.
22. Taylor JR, Ryu J, Colby TV et al: Lymphangioleiomyomatosis. Clinical course in 32 patients. N Engl J Med 1990; 323: 1254–60.
23. Kim NR, Chung MP, Park CK et al. Pulmonary lymphangioleiomyomatosis and multiple hepatic angiomyolipomas in a man. Pathol Int 2003; 53: 231–5.
24. Cudzilo CJ, Szczesniak RD, Brody AS et al. Lymphangioleiomyomatosis screening in women with tuberous sclerosis. Chest 2013.
25. Johnson SR, Tattersfield AE. Clinical experience of lymphangioleiomyomatosis in the UK. Thorax 2000; 55: 1052–7.
26. Almoosa KF, Ryu JH, Mendez J et al. Management of pneumothorax in lymphangioleiomyomatosis: effects on recurrence and lung transplantation complications. Chest 2006; 129: 1274–81.
27. Moua T, Olson EJ, St Jean HC et al. Resolution of chylous pulmonarycongestion and respiratory failure in lymphangioleiomyomatosis with sirolimus therapy. Am J Respir Crit Care Med 2012; 186: 389–90.
28. Chu SC, Horiba K, Usuki J et al. Comprehensive evaluation of 35 patients with lymphangioleiomyomatosis. Chest 1999; 115: 1041–52.
29. Sullivan EJ. Lymphangioleiomyomatosis: a review. Chest 1998; 114: 1689–703.
30. Young LR, Vandyke R, Gulleman PM et al. Serum vascular endothelial growth factor-d prospectively distinguishes lymphangioleiomyomatosis from other diseases. Chest 2010; 138: 674–81.
31. Jr Guinee DG, Feuerstein I, Koss MN et al. Pulmonary lymphangioleiomyomatosis. Diagnosis based on results of transbronchial biopsy and immunohistochemical studies and correlation with highresolution computed tomography findings. Arch Pathol Lab Med 1994; 118: 846–9.
32. Meraj R, Wikenheiser-Brokamp KA, Young LR et al. Utility of transbronchial biopsy in the diagnosis of lymphangioleiomyomatosis. Front Med 2012; 6: 395–405.
33. Harari S, Torre O, Cassandro R et al. Bronchoscopic diagnosis of Langerhans cell histiocytosis and lymphangioleiomyomatosis. Respir Med 2012; 106: 1286–92.
34. Ye L, Jin M, Bai C. Clinical analysis of patients with pulmonary lymphangioleiomyomatosis (PLAM) in mainland china. Respir Med 2010; 104: 1521–6.
35. Hughes E, Hodder RV. Pulmonary lymphangiomyomatosis complicating pregnancy. A case report. J Reprod Med 1987; 32: 553–7.
36. Yockey CC, Riepe RE, Ryan K. Pulmonary lymphangioleiomyomatosis complicated by pregnancy. Kans Med 1986; 87: 277–8, 293.
37. Sleiman C, Mal H, Jebrak G et al. Pulmonary lymphangiomyomatosis treated by single lung transplantation. Am Rev Respir Dis 1992; 145: 964–6.
38. Kerr LA, Blute ML, Ryu JH et al. Renal angiomyolipoma in association with pulmonary lymphangioleiomyomatosis: forme fruste of tuberous sclerosis? Urology 1993; 41: 440–4.
39. Johnson SR, Tattersfield AE. Pregnancy in lymphangioleiomyomatosis. Am J Respir Crit Care Med 1998; 157: A807.
40. Johnson SR, Tattersfield AE. Clinical experience of lymphangioleiomyomatosis in the UK. Thorax 2000; 55: 1052–7.
41. Shen A, Iseman MD, Waldron JA et al: Exacerbation of pulmonary lymphangioleiomyomatosis by exogenous estrogens. Chest 1987; 91: 782–5.
42. Kim NR, Chung MP, Park CK et al. Pulmonary lymphangioleiomyomatosis and multiple hepatic angiomyolipomas in a man. Pathol Int 2003; 53: 231–5.
43. Juvet SC, McCormack FX, Kwiatkowski DJ et al. Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. Am J Respir Cell Mol Biol 2007; 36: 398–408.
44. Cordier JF, Johnson SR. Orphan Lung Diseases. Ed. By J.F.Cordier. Eur Respir Mon 2011; 54: 46–83
45. Taveira-DaSilva AM, Hathaway O, Stylianou M et al. Changes in lung function andchylous effusions in patients with lymphangioleiomyomatosis treated with sirolimus. Ann Intern Med 2011; 154: 797–805, W-292–3.
46. Katsutoshi A, Masatoshi K, Hideyuki K et al. The efficacy andsafetyoflow-dosesirolimusfor treatment oflymphangioleiomyomatosis. Respir Investig 2013; 51: 175–83.
47. Nine JS, Yousem SA, Paradis IL et al. Lymphangioleiomyomatosis: recurrence after lung transplantation. J Heart Lung Transplant 1994; 13: 714–9.
48. O’Brien JD, Lium JH, Parosa JF et al. Lymphangioleiomyomatosis recurrence in the allograft after single lung transplantation. Am J Respir Crit Care 1995; 151: 2033–6.
49. Bittmann I, Rolf B, Amann G et al. Recurrence of lymphangioleiomyomatosis after single lung transplantation: new insights into pathogenesis. Hum Pathol 2003; 34: 95–8.
50. Karbowniczek M, Astrinidis A, Balsara BR et al. Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. Am J Respir Crit Care Med 2003; 167: 976–82.
51. Orens JB, Estenne M, Arcasoy S et al. International guidelines for the selection of lung transplant candidates: 2006 update – a consensus report from the Pulmonary Scientific Council of the International Society for Heart and Lung Transplantation. J Heart Lung Transplant 2006; 25: 745–55.
52. Taveira-DaSilva AM, Steagall WK, Moss J. Lymphangioleiomyomatosis. Cancer Control 2006; 13: 276–85.
53. Lazor R, Valeyre D, Lacronique J et al. Low initial KCO predicts rapid FEV1 decline in pulmonary lymphangioleiomyomatosis. Respir Med 2004; 98: 536–41.
54. Johnson SR, Tattersfield AE. Decline in lung function in lymphangioleiomyomatosis: relation to menopause and progesterone treatment. Am J Respir Crit Care Med 1999; 160: 628–33.
55. Hayashida M, Seyama K, Inoue Y et al. The epidemiology of lymphangioleiomyomatosis in Japan: a nationwide cross-sectional study of presenting features and prognostic factors. Respirology 2007; 12: 523–30.
56. Matsui K, Beasley MB, Nelson WK et al. Prognostic significance of pulmonary lymphangioleiomyomatosis histologic score. Am J Surg Pathol 2001; 25: 479–84.
57. Oprescu N, McCormack FX, Byrnes S et al. Clinical predictors of mortality and cause of death in lymphangioleiomyomatosis: a population-based registry. Lung 2013; 191: 35–42.

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