LYMPHANGIOLEIOMYOMATOSIS SCREENING UPON TRANSITION IN TUBEROUS SCLEROSIS COMPLEX

This is the report “débutant” on our international study including more than 30 expert centers worldwide on LAM in TSC patients upon transition. Tuberous sclerosis complex (TSC) is a rare multisystem autosomal-dominant genetic disorder. Patients are primarily diagnosed in infancy based on dermal and neurological features. Regarding the lungs, TSC is associated with lymphangioleiomyomatosis (LAM) with onset in younger adults, negatively affecting morbidity and mortality. Despite international TSC guidelines recommending screening of women with TSC for LAM at 18 years, many patients are not screened. This study aims to examine the presence of LAM in the transition from childhood to adult life. This is a prospective cohort study including all TSC patients aged 18-26 years old evaluated for LAM after informed consent. TSC diagnosis is based on the latest criteria (2021), and LAM diagnosis on characteristic HRCT findings. All data are collected in an anonymized manner after Medical Ethics Committee approval (Β’ΠΝΕΥΜ, ΕΒΔ 583/29-08-2025). From March to October 2025, 9 of 115 TSC-patients of the Greek pediatric cohort were evaluated, median (IQR) age at inclusion 18 years (17-22), median age at TSC diagnosis 2.3 years (1-5.4), 56% female, 100% non-smokers, BMI 24.6 kg/m2 (23.3-27.6), SatO2% 98 (97.5-98), history of epilepsy 7 (78%), learning difficulties 5 (56%), TSC-associated neuropsychiatric disorders 5 (56%), subependymal giant cell astrocytoma 2 (22.2%), angiomyolipoma 3 (33.3%), mTOR treatment 3 (33.3%). Three (33.3%) patients could collaborate to perform pulmonary function testing. HRCT documented LAM in one patient (11.1%), female, 26-years-old. Patient presented dyspnea with FEV1%-predicted 80% and DLCO=73% and was complicated with pneumothorax shortly after diagnosis. Conclusion: In TSC, screening for LAM upon transition necessitates close collaboration between expert TSC pediatric and adult neurologists with pulmonary physicians to overcome barriers and could allow specialized care to prevent avoidable lung damage, progression of disease and further disability.