Said Christina, Bitar Karim, Elias Fadia
Medicine and Medical Sciences, University of Balamand, Beirut, LBN.
Internal Medicine and Clinical Immunology, Mount Lebanon Hospital University Medical Center, Beirut, LBN.
Cureus. 2025 Jan 1;17(1):e76757. doi: 10.7759/cureus.76757. eCollection 2025 Jan.
Hemophagocytic lymphohistiocytosis (HLH) is an aggressive hematologic disease based on widespread immune activation and tissue destruction. This uncommon condition can be primary as well as secondary to infection or malignancy. However, HLH diagnosis rarely contributes to unveiling an underlying malignancy. The most crucial prognostic factor of HLH is timely diagnosis and treatment. However, due to the rarity of this syndrome and the variable clinical presentations, HLH is often underdiagnosed. A 12-year-old boy complained of recurrent fever and fatigue for the past four months. He presented with pancytopenia, hyperferritinemia, hypertriglyceridemia, elevated liver enzymes, and a severe inflammatory profile. The diagnosis of HLH disease was established. During further evaluation, a right subaxillary palpable lymph node was found. The biopsy revealed a peripheral T-cell lymphoma, not otherwise specified (PTCL, NOS). The bone marrow was also infiltrated with evidence of dissemination to the skeleton on a positron emission tomography (PET) scan (stage IV). The patient was treated with six cycles of CHOEP (cyclophosphamide, doxorubicin, oncovin, etoposide, prednisone) protocol but relapsed and passed away three months later. This case report sheds light on the importance of early recognition and treatment of HLH, as well as searching for underlying malignancy or disease, even in young patients.
噬血细胞性淋巴组织细胞增生症(HLH)是一种基于广泛免疫激活和组织破坏的侵袭性血液疾病。这种罕见病症可为原发性,也可继发于感染或恶性肿瘤。然而,HLH诊断很少有助于揭示潜在的恶性肿瘤。HLH最关键的预后因素是及时诊断和治疗。然而,由于该综合征罕见且临床表现多样,HLH常被漏诊。一名12岁男孩在过去四个月里反复发热、感到疲劳。他表现为全血细胞减少、高铁蛋白血症、高甘油三酯血症、肝酶升高以及严重的炎症反应。HLH疾病诊断成立。在进一步评估中,发现右侧腋下可触及淋巴结。活检显示为外周T细胞淋巴瘤,非特指型(PTCL,NOS)。骨髓也有浸润,正电子发射断层扫描(PET)显示有骨骼转移证据(IV期)。该患者接受了六个周期的CHOEP(环磷酰胺、阿霉素、长春新碱、依托泊苷、泼尼松)方案治疗,但复发,三个月后去世。本病例报告揭示了早期识别和治疗HLH的重要性,以及即使在年轻患者中也要寻找潜在恶性肿瘤或疾病的重要性。