Lymphangioleiomyomatosis associated with tuberous sclerosis: a clinical case report
https://doi.org/10.18093/0869-0189-2026-36-3-497-505
Abstract
Lymphangioleiomyomatosis (ЛАМ) is a rare, systemic and progressive tumor disease characterized by abnormal proliferation of fusiform smooth muscle cells. These cells penetrate into the lungs, kidneys, and lymphatic system, which leads to the development of diffuse thin-walled lung cysts, renal angiomyelitis, and various lymphatic abnormalities. There are 2 main variants of ЛАМ: sporadic ЛАМ (sЛАМ) and ЛАМ associated with tuberous sclerosis (TS). The disease has a pronounced gender predisposition and affects mainly women of reproductive age. ЛАМ in men is extremely rare.
The aim of this study was to demonstrate clinical case of long-term follow-up of a patient with ЛАМ associated with TS with the background of everolimus therapy.
Results. The presented clinical observation demonstrates a relatively benign course of the disease in a patient with TS diagnosed in childhood, with skin lesions, an increase in azotemia against the background of rupture of renal angiomyolipoma, and ЛАМ detected in adulthood. Timely administration of mTOR inhibitors was associated with recovering renal function and no significant increase in pulmonary function impairment.
Conclusion. A multidisciplinary approach to the examination and treatment of patients with TS is a key factor in timely diagnosis verification, timely therapeutic tactics, and reducing the risk of progressing organ dysfunction.
About the Authors
T. V. Kanaeva
Federal State Budgetary Educational Institution of Higher Education “Saratov State Medical University named after V.I.Razumovsky”, Healthcare Ministry of the Russian Federation
Russian Federation
Russian Federation
Tatyana V. Kanaeva, Assistant Professor, Department of Hospital Therapy
ul. Bol’shaya Kazach’ya 112, Saratov, 410012
N A. Karoli
Federal State Budgetary Educational Institution of Higher Education “Saratov State Medical University named after V.I.Razumovsky”, Healthcare Ministry of the Russian Federation
Russian Federation
Russian Federation
Nina A. Karoli, Doctor of Medicine, Professor, Department of Hospital Therapy, Faculty of Medicine
ul. Bol’shaya Kazach’ya 112, Saratov, 410012
References
1. Makarova M.A., Belevskiy A.S. [Lymphangioleiomy-omatosis sporadic and associated with tuberous sclerosis: a pulmonologist’s view]. Pul’monologiya. 2025; 35 (3): 403–411. DOI: 10.18093/0869-0189-2025-35-3-403-411 (in Russian).
2. Johnson S.R., Cordier J.F., Lazor R. et al. European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis. Eur. Respir. J. 2010; 35 (1): 14–26. DOI: 10.1183/09031936.00076209.
3. Gupta N., Finlay G.A., Kotloff R.M. et al. Lymphan-gioleiomyomatosis diagnosis and management: high-resolution chest computed tomography, transbronchial lung biopsy, and pleural disease management. An Official American Thoracic Society/Japanese Respiratory Society clinical practice guideline. Am. J. Respir. Crit. Care Med. 2017; 196 (10): 1337–1348. DOI: 10.1164/rccm.201709-1965ST.
4. Rodenko P.N., Elefteratos J., Rodenko E.L. et al. Sporadic lymphangioleiomyoma-tosis in a 35-year-old female patient: a rare cause of spontaneous pneumothorax. Cureus. 2025; 17 (7): e87346. DOI: 10.7759/cureus.87346.
5. McCarthy C., Gupta N., Johnson S.R. et al. Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management. Lancet Respir. Med. 2021; 9 (11): 1313–1327. DOI: 10.1016/S2213-2600(21)00228-9.
6. Shah J.M., Patel J.T., Shah H. et al. The epidemiology and clinical features of lymphangioleiomyomatosis (LAM): a descriptive study of 33 case reports. Cureus. 2023; 15 (8): e43513. DOI: 10.7759/cureus.43513.
7. Dorofeeva M.Iu., Belousova E.D., Pivovarova A.M. [Recommendations for diagnosis and treatment of tuberous sclerosis]. Zhurnal nevrologii i psikhiatrii imeni S.S.Korsakova. 2014; 114 (3): 58–74. Available at: https://www.mediasphera.ru/issues/zhurnal-nevrologii-i-psikhiatrii-im-s-s-korsakova/2014/3/031997-72982014310?ysclid=mowjli297a805910783 (in Russian).
8. Zhang H., Hu Z., Wang S. et al. Clinical features and outcomes of male patients with lymphangioleiomyomatosis: a review. Medicine (Baltimore). 2022; 101 (52): e32492. DOI: 10.1097/MD.0000000000032492.
9. Ryu J.H., Sykes A.M., Lee A.S., Burger C.D. Cystic lung disease is not uncommon in men with tuberous sclerosis complex. Respir. Med. 2012; 106 (11): 1586–1590. DOI: 10.1016/j.rmed.2012.07.007.
10. Chernyak A.V., Makarova M.A., Avdeev S.N. [Lung function in patients with lymphangioleiomyomatosis]. Byulleten' fiziologii i patologii dykhaniya. 2021; (79): 21–31. DOI: 10.36604/1998-5029-2021-79-21-31 (in Russian).
11. Northrup H., Aronow M.E., Bebin E.M. et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr. Neurol. 2021; 123: 50–66. DOI: 10.1016/j.pediatrneurol.2021.07.011.
12. Dibble C.C., Elis W., Menon S. et al. TBC1D7 is a third subunit of the TSC1-TSC2 complex up-stream of mTORC1. Mol. Cell. 2012; 47 (4): 535–546. DOI: 10.1016/j.molcel.2012.06.009.
13. Crino P.B., Nathanson K.L., Henske E.P. The tuberous sclerosis complex. N. Engl. J. Med. 2006; 355 (13): 1345–1356. DOI: 10.1056/NEJMra055323.
14. Wakida K., Watanabe Y., Kumasaka T. et al. Lymphangioleiomyomatosis in a male. Ann. Thorac. Surg. 2015; 100 (3): 1105–1107. DOI: 10.1016/j.athoracsur.2014.11.069.
15. Gupta N., Henske E.P. Pulmonary manifestations in tuberous sclerosis complex. Am. J. Med. Genet. C Semin. Med. Genet. 2018; 178 (3): 326–337. DOI: 10.1002/ajmg.c.31638.
16. Obraztsova K., Basil M.C., Rue R. et al. mTORC1 activation in lung mesenchyme drives sex- and age-dependent pulmonary structure and function decline. Nat. Commun. 2020; 11 (1): 5640. DOI: 10.1038/s41467-020-18979-4.
17. Kundu N., Holz M.K. Lymphangioleiomyomatosis: a metastatic lung disease. Am. J. Physiol. Cell Physiol. 2023; 324 (2): C320–C326. DOI: 10.1152/ajpcell.00202.2022.
18. Chang W.Y., Cane J.L., Blakey J.D. et al. Clinical utility of diagnostic guidelines and putative biomarkers in lymphangioleiomyomatosis. Respir. Res. 2012; 13 (1): 34. DOI: 10.1186/1465-9921-13-34.
19. Taveira-DaSilva A.M, Jones A.M, Julien-Williams P. et al. Long-term effect of sirolimus on serum vascular endothelial growth factor D levels in patients with lymphangioleiomyomatosis. Chest. 2018; 153 (1): 124–132. DOI: 10.1016/j.chest.2017.05.012.
20. O’Mahony A.M., Lynn E., Murphy D.J. et al. Lymphangioleiomyomatosis: a clinical review. Breathe (Sheff.). 2020; 16 (2): 200007. DOI: 10.1183/20734735.0007-2020.
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For citations:
Kanaeva T.V., Karoli N.A. Lymphangioleiomyomatosis associated with tuberous sclerosis: a clinical case report. PULMONOLOGIYA. 2026;36(3):497-505. (In Russ.) https://doi.org/10.18093/0869-0189-2026-36-3-497-505
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