CHEST Guidelines-A-34-Year-Old-Man-With-a-Chylothorax-and-Bony-Pain

A-34-Year-Old-Man-With-a-Chylothorax-and-Bony-Pain

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The case study involves a 34-year-old man who presented with sudden pleuritic chest pain against a backdrop of progressive exertional dyspnea over a year. The clinical evaluation noted his poor oxygen saturation and rapid respiratory rate, with dull percussion and decreased air entry in the lung bases. Diagnostic imaging revealed bilateral pleural effusions without signs of thromboembolism, and thoracentesis indicated chylothorax. Further investigation, including CT imaging, identified lymphatic malformations and lytic bone lesions, raising the suspicion of a generalized lymphatic anomaly (GLA).<br /><br />Histological examination confirmed significant lymphatic proliferation with features supporting a diagnosis of GLA, a rare condition marked by idiopathic, non-neoplastic proliferation of lymphatic vessels that can cause organ dysfunction through effusions and bone involvement. GLA is often challenging to distinguish from Gorham-Stout disease but primarily involves axial and appendicular skeletal areas, unlike Gorham-Stout's progressive osteolysis and cortical involvement.<br /><br />GLA's etiology may involve genetic predispositions, such as PIK3CA mutations linked to overgrowth spectrum disorders. Treatment of GLA is complicated, with therapies such as sirolimus offering hope based on emerging evidence. The patient was treated with sirolimus, which improved symptoms and prevented fluid reaccumulation for an extended period. However, pleural effusions initially recurred, necessitating interventions including duct embolization.<br /><br />Clinical pearls from the case underscore GLA as a potential diagnosis in patients exhibiting bone lesions and pleural effusions without malignancy, highlight the importance of specific histological findings, and suggest sirolimus as a viable treatment alternative.<br /><br />Despite treatment advancements, GLA remains a challenging condition requiring further research into therapeutic strategies to improve outcomes for affected individuals.

Keywords

generalized lymphatic anomaly

GLA

chylothorax

pleural effusions

lymphatic malformations

sirolimus

PIK3CA mutations

lytic bone lesions

thoracentesis

lymphatic proliferation