时间标签：数据日期 2026-10-31 · 生成时间 2026-11-01 05:30（Asia/Shanghai）｜ 检索窗口 PubMed edat 2026/10/28–2026/10/31 ｜ 情报发生日期 2026-10-31
研究问题
Adult-onset FHLH is increasingly recognized, but it remains diagnostically challenging.；Whether adult-onset FHLH shares the same genetic architecture as pediatric disease remains insufficiently defined.；At the same time, allo-HSCT patterns and post-transplant outcomes in adults with genetically confirmed FHLH remain poorly defined, despite allo-HSCT being the only established curative therapy [–, , ].
方法
We conducted a retrospective nationwide multicenter cohort study across pediatric and adult hematology centers in China.；This study was approved by the Ethics Committee of Beijing Friendship Hospital, Capital Medical University (approval number. 2026-P2-171-01).；Eligible patients had a clinical diagnosis of HLH according to the HLH-2004 diagnostic criteria, with evidence of an inherited FHLH-associated disorder.；Follow-up information was obtained from outpatient and inpatient records, institutional registries, and telephone contact.
核心结论
A total of 223 patients with familial hemophagocytic lymphohistiocytosis (FHLH) were enrolled from 27 centers across 27 provinces, municipalities, or autonomous regions in China.；Adult-onset patients had a significantly longer diagnostic delay than pediatric/adolescent-onset patients (median, 3.0 months [IQR, 1.6–9.2] vs. 1.1 months [IQR, 0.3–4.2]; P < 0.001).；A family history of similar clinical phenotypes or unexplained early death was documented in 16 of 214 evaluable patients (7.5%). ‖ 结论：Together with existing evidence [–, ], these observations support considering inherited disease in adults with HLH even when an acquired trigger is identified.
局限
Previous reports of variable clinical expression in FHLH provide a possible biological context for delayed presentation [, –], although our sequence-based classification cannot establish the contribution of residual cytotoxic function.；Previous adult HLH transplant studies included heterogeneous populations [, ], limiting direct comparisons with this FHLH cohort.；Although accounting for transplant timing reduces immortal time bias, sparse long-term observation without transplantation, particularly among adults, and residual confounding by treatment selection limit interpretation.
对本项目的价值
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全文来源
PMC JATS 全文（正文 25,804 字符，已过标题/DOI 逐字归属校验）
原文题录
- 英文标题：Adult-onset familial hemophagocytic lymphohistiocytosis has distinct genetic architecture and outcomes: a nationwide multicenter cohort study in China.
- 期刊与标识：Biomark Res · PMID 42958546 · DOI 10.1186/s40364-026-01026-7
A 级证据分级：A 级（同行评议人体研究）
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