Case Report: Individualized management of tuberous sclerosis complex-associated lymphangioleiomyomatosis.

Source: PubMed, NCBI / U.S. National Library of Medicine

Tuberous sclerosis complex-associated lymphangioleiomyomatosis (TSC-LAM) is a rare systemic disorder characterized by smooth muscle-like cell proliferation, leading to cystic lung destruction, predominantly affecting women of reproductive age. We report a female patient in her mid-30s who presented with recurrent spontaneous pneumothoraces temporally associated with menstruation, diffuse bilateral pulmonary cysts on high-resolution computed tomography, bilateral renal angiomyolipomas, and facial angiofibromas. Genetic testing confirmed TSC-LAM. The patient was initiated on sirolimus (1 mg/day) with therapeutic drug monitoring to maintain trough levels within the target range. Regular follow-up included pulmonary function tests, serial imaging, and genetic counseling with cascade screening for offspring. After treatment, the disease remained clinically stable without significant adverse effects; imaging demonstrated no progression of pulmonary cysts and a reduction in renal angiomyolipoma volume. This case underscores the importance of early recognition, individualized sirolimus dosing to balance efficacy and toxicity, and systematic family screening for early detection and prevention of disease transmission in this heritable condition.