成人家族性嗜血细胞性淋巴组织细胞增多症误诊并文献复习

Report of Misdiagnosis of Familial Hemophagocytic Lymphohistiocytosis and Literature Review

目的探讨成人家族性嗜血细胞性淋巴组织细胞增多症(familial hemophagocytic lymphohistiocytosis,FHLH)的临床特点、误诊原因及防范措施。方法对我院收治的曾误诊的成人FHLH 1例的临床资料进行回顾性分析并复习相关文献。结果本例52岁发病,以反复发热伴全血细胞减少为主要表现,经多次多部位淋巴结活检、骨髓活检、脾切除后病理检查及皮肤活检等,诊断继发性嗜血细胞性淋巴组织细胞增多症(secondary hemophagocytic lymphohistiocytosis,SHLH),病因曾考虑淋巴瘤合并的嗜血细胞性淋巴组织细胞增多症(hemophagocytic lymphohistiocytosis,HLH)、EB病毒相关HLH,先后予糖皮质激素、抗细菌、抗真菌及抗病毒等治疗无效,按HLH 2004指南建议方案进行治疗,同时回输自体EB病毒特异性细胞毒T淋巴细胞,病情稳定31个月后复发,基因序列检查属于FHLH 2型,予化学治疗等无效死亡,发病至死亡持续时间4年余。结论成人FHLH临床少见,易误诊。提高对其认识,注意与SHLH进行鉴别诊断,尽早进行基因筛查,可减少误诊。

Objective To study the clinical features, misdiagnosis causes of familial hemophagocytic lymphohistiocy-tosis （ FHLH） and seek precautions against misdiagnosis. Methods The clinical data of a patient with FHLH was retrospec-tively analyzed and related literature was reviewed. Results The FHLH affected the 52-year-old patient with main symptoms of recurrent fever and pancytopenia. By morphological features of biopsies （ lymph nodes, bone marrow, excised spleen and skin） , the patient was diagnosed with secondary hemophagocytic lymphohistiocytosis. Lymphoma combined with hemophago-cytic lymphohistiocytosis or EBV-associated HLH was considered as the pathogeny. Glucocorticoid and anti-bacterial, anti-fungal and anti-viral treatments were used, but no efficacy appeared. According to “Guide to therapy of HLH 2004”, com-bined therapy with autologous EBV-specific cytotoxic T lymphocytes was given, which induced remission. The patient＇s condi-tion had been stable for 31months until at last he died shortly after the disease relapsed and didn＇t respond at all to chemothera-py. From coming-on of the disease to patient＇s death, it lasted more than 4 years. The final diagnosis of the FHLH was ascer-tained by gene determination which pointed to FHLH2. Conclusion Adult-onset familial hemophagocytic lymphohistiocytosis is rare in clinic, and may be misdiagnosed easily. Improving understanding of the disease, making differential diagnosis of secondary HLH carefully and timely gene screening are the keys to reduce misdiagnosis.