不伴骨髓噬血现象的成人噬血细胞综合征1例报道及文献复习

Hemophagocytic syndrome in adults without bone marrow hemophagocytosis: case report and literature review

噬血细胞综合征又称噬血细胞性淋巴组织细胞增生症(hemophagocytic Lym-phohistiocytosis,HLH),是一种危及生命的侵袭性免疫过度活化综合征,该病相对少见,病情进展迅速,预后极差,且因诊断特异性低,临床极易误诊、漏诊。文章报道1例因反复高热、全身皮疹、颈部淋巴结肿大伴压痛,脾大、骨髓不伴噬血现象,经抗生素联合激素治疗1周后效果欠佳,病情急剧恶化,出现意识不清、多器官功能障碍,DIC,经ECMO抢救无效死亡的案例。结合HLH-2004诊断8项标准,该患者发热≥38.5℃,脾大,红细胞、血小板减少,低纤维蛋白原血症,铁蛋白大于500 ng·ml-1,s CD25(sIL-2R)升高,符合其中6项,最终诊断为噬血细胞综合征。

Hemophagocytic lymphohistiocytosis(HLH)is an aggressive and life-threatening syndrome of excessive immune activation.Delay in diagnosis is due to the rarity of this syndrome,variable clinical presentation,and lack of specificity of the clinical and laboratory findings.Here we reported a dead case of hemophagocytic syndrome in adults.The patient manifested as recurrent high fever,systemic rash,and cervical lymph node enlargement with tenderness,splenomegaly,bone marrow cytology without hemophagocytic cells,and nonresponse to antibiotic combined with hormone treatment.The patient died with multiple organ dysfunction and DIC regardless of ECMO support.According to the patient’s manifestation,including fever≥38.5℃,splenomegaly,hemoglobin<9 g/dL,platelets<100,000/microL,hypofibrinogenemia,Ferritin>500 ng·m-1,elevated soluble CD25,met 6 criteria of HLH-2004 trial and was finally diagnosed as hemophagocytic syndrome.