Section of Hematology/Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Texas Children's Cancer and Hematology Centers, Houston, TX, USA.
Eur J Haematol. 2021 Jun;106(6):783-787. doi: 10.1111/ejh.13600. Epub 2021 Mar 16.
Evans syndrome is a rare but challenging disorder in children; and despite rapidly growing evidence for targetable systemic immune dysregulation driving these "idiopathic" autoimmune cytopenias, precision diagnosis and management remains sub-optimal among these patients. We analyzed retrospective clinical data for 60 pediatric ES patients followed at 3 large tertiary referral centers in the United States over a recent 6-year period and found that definable underlying systemic immune dysregulation was identified in only 42% of these patients throughout the course of clinical care. Median time from ES diagnosis to identification of the underlying systemic immune dysregulation disorder was 1.3 years (<1 month for rheumatologic disease, 2.3 years for CVID, 3.4 years for ALPS, and 7.4 years for monogenic disorders of immune regulation). Notably, a significantly higher percentage of patients in whom a definitive immune dysregulation disorder was ultimately identified required ≥3 cytopenia-directed therapies (92%) and also second- and third-line immunomodulatory agents (84%), vs those in whom no unifying immune dysregulation was diagnosed (65%, and 35%, respectively)-indicating that autoimmune cytopenias as a manifestation of systemic immune dysregulation are more treatment-refractory and severe. These data underline the importance of identifying the underlying systemic immune dysregulation and providing targeted therapy in pediatric ES.
Evans 综合征是一种罕见但具有挑战性的儿童疾病；尽管有越来越多的证据表明针对系统性免疫失调可治疗这些“特发性”自身免疫性血细胞减少症，但这些患者的精准诊断和管理仍不尽如人意。我们分析了美国 3 家大型三级转诊中心最近 6 年期间 60 例儿科 Evans 综合征患者的回顾性临床数据，发现在整个临床治疗过程中，这些患者中仅有 42%可明确确定潜在的系统性免疫失调。从 Evans 综合征诊断到确定潜在系统性免疫失调障碍的中位时间为 1.3 年（风湿性疾病为<1 个月，CVID 为 2.3 年，ALPS 为 3.4 年，免疫调节单基因疾病为 7.4 年）。值得注意的是，最终确定明确免疫失调障碍的患者中，需要≥3 种针对血细胞减少症的治疗方法（92%）和二线和三线免疫调节剂（84%）的比例明显更高，而那些未诊断出明确免疫失调的患者（分别为 65%和 35%）——这表明作为系统性免疫失调表现的自身免疫性血细胞减少症更难治疗且更严重。这些数据强调了确定潜在系统性免疫失调并提供靶向治疗的重要性。
