背景:噬血细胞性淋巴组织细胞增生症(HLH)是一种罕见的,由组织细胞异常和T细胞激活引起的危及生命的疾病。在成年人中,它主要与感染有关,癌症,和自身免疫性疾病。复发性多软骨炎(RP),另一种罕见的疾病,根据症状诊断,没有具体的测试,以肿胀为特征的软骨炎症,发红,和痛苦,很少诱导HLH。
方法:一名74岁的妇女因发烧38.6°C来到急诊室。验血,文化,并进行影像学检查以评估发热。结果显示荧光抗核抗体水平升高和轻度血细胞减少,没有其他具体发现。影像学显示淋巴结肿大;然而,活检结果尚无定论.在对体检进行重新评估后,在耳朵和鼻子中观察到提示RP的炎症体征,提示组织活检确认。同时,伴有血细胞减少的持续发热促使骨髓检查,揭示噬血细胞。在血液培养中没有发现显著结果后,病毒标记,和淋巴结肿大的组织检查,HLH由RP诊断。治疗包括甲基强的松龙,然后是硫唑嘌呤。两个月后,骨髓检查证实了吞噬作用的消退,高铁蛋白血症和全血细胞减少症正常化。
结论:彻底的体格检查可以诊断和治疗由RP引发的HLH患者的不明原因发热。
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening disorder caused by abnormal histiocytes and T cell activation. In adults, it is predominantly associated with infections, cancers, and autoimmune diseases. Relapsing polychondritis (RP), another rare disease, is diagnosed based on symptoms without specific tests, featuring cartilage inflammation characterized by swelling, redness, and pain, rarely inducing HLH.
METHODS: A 74-year-old woman visited the emergency room with a fever of 38.6 °C. Blood tests, cultures, and imaging were performed to evaluate fever. Results showed increased fluorescent antinuclear antibody levels and mild cytopenia, with no other specific findings. Imaging revealed lymph node enlargement was observed; however, biopsy results were inconclusive. Upon re-evaluation of the physical exam, inflammatory signs suggestive of RP were observed in the ears and nose, prompting a tissue biopsy for confirmation. Simultaneously, persistent fever accompanied by cytopenia prompted a bone marrow examination, revealing hemophagocytic cells. After finding no significant results in blood culture, viral markers, and tissue examination of enlarged lymph nodes, HLH was diagnosed by RP. Treatment involved methylprednisolone followed by azathioprine. After two months, bone marrow examination confirmed resolution of hemophagocytosis, with normalization of hyperferritinemia and pancytopenia.
CONCLUSIONS: Thorough physical examination enabled diagnosis and treatment of HLH triggered by RP in patients presenting with fever of unknown origin.