Complejo de Esclerosis Tuberosa y Afectación Pulmonar

Abstract

Introduction: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in TSC1 or TSC2, which disrupt the mTOR pathway and lead to abnormal cell proliferation and hamartomas in multiple organs. Among its complications, lymphangioleiomyomatosis (LAM) is the most significant, causing pulmonary cysts, pneumothorax, and potential respiratory failure. TSC-associated LAM primarily affects women. Diagnosis is based on high-resolution imaging, clinical findings, and biomarkers such as VEGF-D, while genetic confirmation allows for early surveillance. Patient education and timely management, including pleurodesis and mTOR inhibitors, improve prognosis and reduce complications. Clinical case: We present the case of a young woman with a history of tuberous sclerosis, who has had multiple admissions for respiratory failure crises related to recurrent left pneumothorax due to chronic lung damage in the context of lymphangioleiomyomatosis and that despite management with everolimus her lung damage continues to progress, so she is currently on the lung transplant list. Conclusions: Lymphangioleiomyomatosis-type lung damage associated with tuberous sclerosis is common and produces repeated episodes of pneumothorax and progressive damage to respiratory function, with the subsequent development of pulmonary hypertension, so it must be managed by multiple specialties.