Lymphangioleiomyomatosis: a brief literature review and clinical cases
https://doi.org/10.18093/0869-0189-2026-36-3-489-496
Abstract
Lymphangioleiomyomatosis (LAM) is a rare, progressive, neoplastic lung disease characterized by excessive smooth muscle cell proliferation, leading to the development of cystic lung lesions. The disease is caused by mutations in the tuberous sclerosis complex (TSC1) or TSC2 genes. It predominantly affects women. LAM is diagnosed in patients with tuberous sclerosis (TS-LAM) and as a sporadic disease (sporadic LAM, sLAM).
The aim of this study was to review the literature and present clinical data on patients with LAM.
Methods. A brief literature review was prepared using Scopus and PubMed databases. Data from our own clinical observations are presented.
Results. A literature review and two clinical observations of patients with LAM are presented, stratifying factors of an unfavorable prognosis. The first patient was premenopausal and had multiple thin-walled air cysts, complicated by recurrent pneumothorax and left kidney damage (angiomyolipoma). The second patient was taking combined oral contraceptives and presented with progressive respiratory failure with diffusely distributed progressive thin-walled cysts in the lungs, accompanied by a decrease in the lung diffusion capacity.
Conclusion. Initial diagnosis of LAM requires a multidisciplinary approach, and once detected, a thorough examination and close monitoring are necessary.
About the Authors
I. V. Leshchenko
Federal State Budget Educational Institution of Higher Education “Ural State Medical University” of the Ministry of Health of the Russian Federation;
Ural Federal Research Institute of Phthisiology and Pulmonology – a Branch of National Medical Research Center for Phthisiology, Pulmonology and Infectious Diseases, Healthcare Ministry of Russia;
Limited Liability Company “Novaya bol’nitsa” Clinical Association
Russian Federation
Russian Federation
Igor V. Leshсhenko, Doctor of Medicine, Professor, Department of Phthisiology and Pulmonology, Federal State Budgetary Educational Institution of Higher Education “Ural Federal State Medical University”, Healthcare Ministry of Russia; Chief Researcher, Ural Federal Research Institute of Phthisiology and Pulmonology – a Branch of National Medical Research Center for Phthisiology, Pulmonology and Infectious Diseases, Healthcare Ministry of Russia; Scientific Director, Limited Liability Company “Novaya bol’nitsa” Clinical Association, Chief Freelance Pulmonologist, Healthcare Ministry of the Sverdlovsk Region, Honored Doctor of the Russian Federation
ul. Repina 3, Ekaterinburg, 620028,
ul. 22-go Parts’ezda 50, Ekaterinburg, 620039,
ul. Zavodskaya 29, Ekaterinburg, 620109
T. V. Glushkova
Уральский научно-исследовательский институт фтизиопульмонологии – филиал федерального государственного бюджетного учреждения «Национальный медицинский исследовательский центр фтизиопульмонологии и инфекционных заболеваний» Министерства здравоохранения Российской Федерации
Russian Federation
Russian Federation
Tatiana V. Glushkova – Candidate of Medicine, Senior Researcher, Pulmonologist, Consultative And Diagnostic Department
ul. 22-go Parts’ezda 50, Ekaterinburg, 62003
N. D. Ponomareva
State Autonomic Healthcare Institution of the Sverdlovsk Region “Sverdlovsk Regional Clinical Hospital No.1”
Russian Federation
Russian Federation
Natal’ya D. Ponomareva, Сandidate of Medicine, Head of the Pulmonology Department
ul. Volgogradskaya 185, Ekaterinburg, 620102
References
1. Khaddour K., Sankari A., Shayuk M. Lymphangioleiomyomatosis. Updated 2023. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025. Available at: на: https://www.ncbi.nlm.nih.gov/books/NBK534231/ [Accessed: February 10, 2026].
2. Lagos Castillo M., Reyes Cartes F. [Lymphangioleiomyomatosis: update on pathophysiology, diagnosis, and treatment]. Rev. Med. Chil. 2025;153 (1): 63–71. DOI: 10.4067/s0034-98872025000100063 (in Spanish).
3. Bouanzoul M.A., Rosen Y. Lymphangioleiomyomatosis: a review. Arch. Pathol. Lab Med. 2025; 149 (8): 775–788. DOI: 10.5858/arpa.2024-0206-RA.
4. Saluja P., Gupta N. Current perspectives on the diagnosis and management of lymphangioleiomyomatosis. Clin. Chest Med. 2025; 46 (4): 589–604. DOI: 10.1016/j.ccm.2025.07.002.
5. Makarova M.A., Belevskiy A.S. [Lymphangioleiomyomatosis, sporadic and associated with tuberous sclerosis: a pulmonologist’s point of view]. Pul′monologiya. 2025; 35 (3): 403–411. DOI: 10.18093/0869-0189-2025-35-3-403-411 (in Russian).
6. Mukhitov A.R., Evans J.F., Han T. et al. Extracellular matrix and fibroblast activation in lymphangioleiomyomatosis. Am. J. Respir. Cell Mol. Biol. 2026; 74 (2): 257–270. DOI: 10.1165/rcmb.2025-0237OC.
7. Samsonova M.V., Timofeeva A.S., Pakhomov P.V. et al. [Lymphangioleiomyomatosis: X-ray morphological comparisons]. Pul′monologiya. 2024; 34 (1): 50–58. DOI: 10.18093/0869-0189-2024-34-1-50-58 (in Russian).
8. Johnson S.R. Cordier J.F., Lazor R. et al. [European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomymatosis]. Pul′monologiya. 2010; (6): 9–23. DOI: 10.18093/0869-0189-2010-6-9-23 (in Russian).
9. Baraghoshi D., Strand M., Humphries M.S. et al. Quantitative CT evaluation of emphysema progression over 10 years in the COPDGene study. Radiology. 2023; 307 (4): e222786. DOI: 10.1148/radiol.222786.
10. Zhou J., Diao M. Lymphangioleiomyomatosis and pregnancy: a mini-review. Arch. Gynecol. Obstet. 2024; 309 (6): 2339–2346. DOI: 10.1007/s00404-024-07478-2.
11. McCormack F.X., Gupta N., Finlay G.R. et al. ATS/JRS Committee on lymphangioleiomyomatosis. Official American Thoracic Society/Japanese Respiratory Society clinical practice guidelines: lymphangioleiomyomatosis diagnosis and management. Am. J. Respir. Crit. Care Med. 2016; 194 (6): 748–761. DOI: 10.1164/rccm.201607-1384ST.
12. Espin R., Baiges A., Blommaert E. et al. Heterogeneity and cancer-related features in lymphangioleiomyomatosis cells and tissue. Mol. Cancer Res. 2021; 19 (11): 1840–1853. DOI: 10.1158/1541-7786.MCR-21-0220.
13. Makarova M.A., Baimakanova G.E., Belevskiy A.S. et al. [Vascular endothelial growth factor D in the diagnosis of lymphangioleiomyomatosis]. Pul′monologiya. 2025; 35 (5): 753–757. DOI: 10.18093/0869-0189-2025-35-5-753-757 (in Russian).
14. Bittmann I., Rolf B., Amann G.,Löhrs U. et al. Recurrence of lymphangioleiomyomatosis after single lung transplantation: new insights into pathogenesis. Hum. Pathol. 2003; 34 (1): 95–98. DOI: 10.1053/hupa.2003.50.
15. Crooks D.M., Pacheco-Rodriguez G., DeCastro R.M. et al. Molecular and genetic analysis of disseminated neoplastic cells in lymphangioleiomyomatosis. Proc. Natl. Acad. Sci. USA. 2004; 101 (50): 17462–17467. DOI: 10.1073/pnas.0407971101.
16. Elia D., Harari S., Fan L. et al. Novel treatment strategies for lymphangioleiomyomatosis: a narrative review. Eur. Respir. Rev. 2025; 34 (177): 250019. DOI: 10.1183/16000617.0019-2025.
17. Herranz C., Mateo F., Baiges A. et al. Histamine signaling and metabolism identify potential biomarkers and therapies for lymphangioleiomyomatosis. EMBO Mol. Med. 2021; 13 (9): e13929. DOI: 10.15252/emmm.202113929.
18. 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.
19. Khaddour K., Shayuk M., Ludhwani D. et al. Pregnancy unmasking symptoms of undiagnosed lymphangioleiomyomatosis: case report and review of literature. Respir. Med. Case Rep. 2018; 26: 63–67. DOI: 10.1016/j.rmcr.2018.11.010.
Review
For citations:
Leshchenko I.V., Glushkova T.V., Ponomareva N.D. Lymphangioleiomyomatosis: a brief literature review and clinical cases. PULMONOLOGIYA. 2026;36(3):489-496. (In Russ.) https://doi.org/10.18093/0869-0189-2026-36-3-489-496
Views:
81
JATS XML
Email this article 