Department of Medicine, Division of General Internal Medicine, University of Alabama at Birmingham, Birmingham, AL, United States; Department of Pathology, Division of Laboratory Medicine, University of Alabama at Birmingham, Birmingham, AL, United States.
Department of Medicine, Division of General Internal Medicine, University of Alabama at Birmingham, Birmingham, AL, United States.
Am J Med Sci. 2021 Mar;361(3):388-393. doi: 10.1016/j.amjms.2020.10.004. Epub 2020 Oct 7.
We report, to the best of our best knowledge, the oldest individual to ever be diagnosed with Familial Hemophagocytic Lymphohistiocytosis (FHL) Type 2 from homozygous c.1349C>T (p.T450M) missense variants in the PRF1 gene. This rare case advanced in complexity with a simultaneous diagnosis of Chronic Active Epstein-Barr Virus (CAEBV) - a distinct clinical entity from acute EBV infections and a well-described trigger of Hemophagocytic Lymphohistiocytosis (HLH). This is, to the best of our knowledge, the only individual to ever be diagnosed with CAEBV in the setting of this specific variant and the oldest to be diagnosed with a coexisting perforin variant. This case provides understanding of EBV, human genetics, and lymphoproliferative disorders while adding a unique differential diagnosis to adults who present with fever of unknown origin and diffuse lymphadenopathy without evidence of malignancy. This report explores the diagnosis and treatment of both HLH and CAEBV, encouraging discussion regarding current clinical management and future research needs.
据我们所知，这是首例因 PRF1 基因中 c.1349C>T（p.T450M）错义变体纯合导致的家族性噬血细胞性淋巴组织细胞增生症（FHL）2 型患者，该患者年龄最大。这种罕见病例的复杂性不断增加，同时诊断出慢性活动性 EBV 感染（CAEBV），这是一种与急性 EBV 感染不同的临床实体，也是噬血细胞性淋巴组织细胞增生症（HLH）的明确诱因。据我们所知，这是唯一在该特定变体背景下诊断出 CAEBV 的个体，也是诊断出同时存在穿孔素变体的年龄最大的个体。该病例提供了对 EBV、人类遗传学和淋巴增生性疾病的理解，同时为以不明原因发热和弥漫性淋巴结病为特征且无恶性证据的成人提供了独特的鉴别诊断。本报告探讨了 HLH 和 CAEBV 的诊断和治疗，鼓励讨论当前的临床管理和未来的研究需求。
