Radiological manifestations of lymphangioleiomyomatosis : a local patient cohort analysis

Abstract

Background: Lymphangioleiomyomatosis (LAM) is an ultra-rare neoplastic cystic disease primarily affecting females of reproductive age, characterized by the infiltration of smooth muscle cells into the lungs and the formation of cystic lesions. This study aims to compare the radiological findings in patients with sporadic LAM (s-LAM) and those with LAM associated with tuberous sclerosis complex (TSC-LAM) in the Maltese population.

Methods: A retrospective observational study was conducted at Mater Dei Hospital, Malta, involving eight patients diagnosed with LAM between 2014 and 2024. Thoracic and abdominal CT scans were reviewed, and findings were categorized based on the presence of s-LAM or TSC-LAM.

Results: The cohort included five patients with s-LAM and three with TSC-LAM, alongside 15 patients with tuberous sclerosis complex (TSC) but no LAM. All LAM patients exhibited diffuse thin-walled cysts, with sizes ranging from 7 to 72 mm. Notably, chylous pleural effusions were observed only in the s-LAM group. The TSC-LAM group demonstrated significant extra-pulmonary manifestations, including renal angiomyolipomas, with some requiring intervention.

Conclusion: This study highlights the distinct radiological features and complications associated with s-LAM and TSC-LAM. The findings underscore the necessity for vigilant screening and monitoring in TSC patients to manage potential LAM-related complications effectively. A multidisciplinary approach is essential for optimizing patient outcomes and addressing the broader implications of TSC and LAM on health.