Diaphragmatic endometriosis with hepatic herniation: case report and review of literature

Diaphragmatic endometriosis is a rare and often underrecognized manifestation of extrapelvic endometriosis that may lead to severe complications such as diaphragmatic rupture or herniation. We report the case of a 42-year-old woman with a long history of cyclical thoracic pain who was finally diagnosed with right-sided diaphragmatic endometriosis, complicated by a large diaphragmatic defect and hepatic herniation. For more than two decades, her symptoms were misattributed to musculoskeletal causes, resulting in delayed diagnosis. Imaging revealed a right diaphragmatic defect with protrusion of the liver into the thoracic cavity, and video-assisted thoracoscopic surgery (VATS) confirmed the presence of ectopic endometrial glands as well as stroma positive for CD10 and estrogen/progesterone receptors. Surgical repair with diaphragmatic reconstruction was performed. However, the postoperative course was complicated by catamenial pneumothorax, requiring a second VATS procedure with pleurectomy and pleural abrasion Subsequent hormonal therapy resulted in partial symptom control. This case highlights the diagnostic complexity and progressive nature of diaphragmatic endometriosis and underscores the importance of early multidisciplinary collaboration between gynecologic and thoracic specialists. It further demonstrates that surgical repair alone may be insufficient in cases with thoracic involvement and that coordinated multidisciplinary management is essential to improve long-term disease control.