Lymphangioleiomyomatosis: diagnosis of a rare cystic lung disease in a clinical case

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.