Abstract This is a 34-year-old patient with a history of generalized lymphatic anomaly (GLA), formerly known as lymphangiomatosis, involving her spleen, bones, and lungs, and takes sirolimus. She had been having progressive dyspnea over several months as well as an enlarging soft tissue mass on the anterior chest wall. A whole-body MRI demonstrated marked increase in the size of intrathoracic lymphatic malformations, now involving more than half of the intrathoracic cavities bilaterally, as well as progressive disease in the spleen and bones. Given the enlarging intrathoracic structures and dyspnea, she was referred for lymphangiogram and possible percutaneous embolization. The procedure was delayed due to inability to lie supine, requiring drainage of bilateral chylous pleural effusions as a temporizing measure. The anterior chest wall mass was also drained of chylous fluid; at the conclusion of the procedure, radiocontrast dye was injected into the mass, showing blush of fluid into the large intrathoracic lymphatic malformations. She was to undergo repeat intervention, but her dyspnea was not tremendously improved after bilateral drainage and so she returned to the hospital, where additional pleural drainage was pursued. CT chest done at that time again demonstrated large intrathoracic lymphatic malformations, better seen on ultrasound as macrocystic, complex spaces. Currently, there are ongoing discussions regarding how to best manage these abnormal lymphatic structures with accompanying dyspnea. GLA falls under the umbrella of complex lymphatic anomaly, which includes other diseases like kaposiform lymphangiomatosis (KLA), central collecting lymphatic anomaly (CCLA), and Gorham-Stout disease (GSD). The underlying pathobiology involves multicentric proliferation of dilated lymphatic vessels that can affect bone, liver, spleen, the mediastinum, and lungs. Symptoms arise from obstruction and invasion into surrounding organs. GLA is a congenital disorder; activating mutations in the PI3K/AKT/mTOR pathway are implicated, leading to abnormal lymphatic endothelial cell proliferation and lymphatic vessel overgrowth. It can manifest at birth, but will sometimes not be apparent until later in life; earlier onset of disease is associated with a poorer prognosis. Management of GLA is symptom-driven, as the disease has no cure. Medical management is preferred; drugs such as mTOR inhibitors like sirolimus and everolimus are often used. There are also reports suggesting utility of other drugs like selective PI3K inhibitors (alpelisib), tyrosine kinase inhibitors, and VEGF inhibitors (bevacizumab). Interventions like surgical excision and percutaneous embolization only serve to alleviate symptoms and do little to address the root cause, and thus have high rates of recurrence. This abstract is funded by: None
B Dougherty (Fri,) studied this question.