Miranda-Burgos Laura, Khan Aliya, Anand Gautam, Dabage-Forzoli Nemer
Internal Medicine, Broward Health North, Deerfield Beach, USA.
Gastroenterology, Broward Health North, Deerfield Beach, USA.
Cureus. 2024 Sep 10;16(9):e69088. doi: 10.7759/cureus.69088. eCollection 2024 Sep.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disorder characterized by glycosylphosphatidylinositol (GPI)-linked membrane protein deficiency, leading to hemolytic anemia and thrombosis. A subset of patients develop severe neutropenia, predisposing them to neutropenic enterocolitis (NEC). We present a case of fatal NEC following eculizumab therapy in a 31-year-old female with PNH. She presented with abdominal pain, fever, and neutropenia post-eculizumab. Despite aggressive management, including antibiotics and supportive care, she developed septic shock complicated by bacteremia, multiorgan failure, and two episodes of cardiac arrest, leading to severe lactic acidosis and ultimately progressing to brain death. The etiology of NEC in PNH patients remains multifactorial, involving immunocompromised and treatment-related factors. This case underscores the challenges in managing NEC and highlights the importance of early recognition and intervention in high-risk patients.
阵发性睡眠性血红蛋白尿症（PNH）是一种罕见的疾病，其特征是糖基磷脂酰肌醇（GPI）连接的膜蛋白缺乏，导致溶血性贫血和血栓形成。一部分患者会出现严重的中性粒细胞减少，使他们易患中性粒细胞减少性小肠结肠炎（NEC）。我们报告一例31岁患有PNH的女性在接受依库珠单抗治疗后发生致命性NEC的病例。她在接受依库珠单抗治疗后出现腹痛、发热和中性粒细胞减少。尽管采取了积极的治疗措施，包括使用抗生素和支持治疗，但她仍发展为感染性休克，并伴有菌血症、多器官功能衰竭和两次心脏骤停，导致严重的乳酸酸中毒，最终发展为脑死亡。PNH患者发生NEC的病因仍然是多因素的，涉及免疫功能低下和治疗相关因素。该病例强调了管理NEC的挑战，并突出了对高危患者进行早期识别和干预的重要性。
