Lymphangioleiomyomatosis: diagnosis of a rare cystic lung disease in a clinical case
https://doi.org/10.18093/0869-0189-2023-33-3-427-433
Abstract
Sporadic lymphangioleiomyomatosis (LAM) is an orphan disease that primarily affects women of childbearing age. Increasing awareness of this disease among physicians can contribute to its timely diagnosis and treatment.
The aim of this work was to present a case of a young woman with a rare cystic lung disease. At the first visit to the clinic, the patient showed pronounced clinical, radiological and functional changes in the bronchopulmonary system, and a rare pathology was suspected. Establishing the definitive diagnosis in the shortest possible time was essential because pathogenetic therapy with an mTOR inhibitor had to be initiated as soon as the diagnosis of LAM had been clarified. Until 2010, a definitive diagnosis of LAM was made only by surgical lung biopsy. However, there is currently a shift in practice toward less invasive diagnostic methods that eliminate the need for surgical intervention in most patients.
Conclusion. An algorithm for making a definitive diagnosis (sporadic LAM) without morphologic examination of the lung is demonstrated.
Supporting agencies: The authors declare that no external funding was provided for the study or publication
About the Authors
M. A. Makarova
Federal State Autonomous Educational Institution of Higher Education “N.I. Pirogov Russian National Research Medical University” of the Ministry of Health of the Russian Federation; Federal State Budgetary Institution “Pulmonology Scientific Research Institute” under Federal Medical and Biological Agency of Russian Federation
Russian Federation
Competing Interests:
Russian Federation
Marina A. Makarova - Candidate of Medicine, Associate Professor, Department of Pulmonology, Faculty of Additional Professional Education, N.I. Pirogov RNRMU; Researcher, Laboratory of Intensive Care and Respiratory Failure, Federal State Budgetary Institution “Pulmonology Scientific Research Institute; Author ID: 766549.
Ul. Ostrovityanova 1, Moscow, 117997; Orekhovyy bul’var 28, Moscow, 115682; tel.: (499) 780-08-43
Competing Interests:
There is no conflict of interest.
A V Chernyak
Federal State Budgetary Institution “Pulmonology Scientific Research Institute” under Federal Medical and Biological Agency of Russian Federation; State Budgetary Healthcare Institution of the City of Moscow “City Clinical Hospital named after D.D. Pletnev of Moscow Department of Health”
Russian Federation
Competing Interests:
Russian Federation
Alexander V. Cherniak - Candidate of Medicine, Head of Laboratory of Functional and Ultra-sound Investigations, Pulmonology Scientific Research Institute; Physician of Functional Diagnostics, Department of Functional and Ultrasound Diagnostics, City Clinical Hospital named after D.D. Pletnev of Moscow Department of Health; Author ID: 687383.
Orekhovyy bul’var 28, Moscow, 115682; ul. Odinnadtsataya Parkovaya 32, Moscow, 105077; tel.: (495) 395-63-93
Competing Interests:
There is no conflict of interest
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Makarova M.A., Chernyak A.V. Lymphangioleiomyomatosis: diagnosis of a rare cystic lung disease in a clinical case. PULMONOLOGIYA. 2023;33(3):427-433. (In Russ.) https://doi.org/10.18093/0869-0189-2023-33-3-427-433
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