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高铁蛋白血症:风湿病学家需鉴别的重要疾病

Hyperferritinemia: Important Differentials for the Rheumatologists.

作者信息

Kaur Mandeep, Lo Samantha W S, Liu Yixin, Yip Kevin

机构信息

Internal Medicine, Wyckoff Heights Medical Center, New York, USA.

Internal Medicine, Icahn School of Medicine at Mount Sinai, Elmhurst Hospital Center, Queens, USA.

出版信息

Cureus. 2024 Sep 3;16(9):e68588. doi: 10.7759/cureus.68588. eCollection 2024 Sep.

DOI:10.7759/cureus.68588
PMID:39371829
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11450084/
Abstract

Ferritin is commonly used as a marker for iron status, aiding in diagnosing iron deficiency anemia. However, it is also an acute phase reactant often elevated in various inflammatory conditions. Marked hyperferritinemia, defined as ferritin levels above 10,000 μg/L, can indicate severe underlying conditions, including infections, cardiovascular like heart failure, endocrinological, autoimmune, and malignancies. This case report highlights the differential diagnoses and clinical implications of hyperferritinemia from a rheumatological perspective. Here are two case reports illustrating the use of ferritin in aiding the diagnosing of two uncommon conditions: adult-onset Still's disease (AOSD) and hemophagocytic lymphohistiocytosis (HLH). The first case involves a 37-year-old male who presented with a pruritic rash, flu-like symptoms, joint pain, fever, and chills. Despite multiple emergency department (ED) visits, his hyperferritinemia reached 88,000 μg/L, and he met the Yamaguchi criteria for AOSD. Treatment with pulse-dose steroids led to a rapid resolution of symptoms. In the second case, a 50-year-old female presented with sepsis due to recurrent axillary skin infections, needing transfer to the intensive care unit. Laboratory findings revealed hyperferritinemia of 39,671 μg/L, crucial for distinguishing between rheumatological and hematological causes. Further investigation revealed diffuse large B-cell lymphoma. Tragically, the patient succumbed to her illness. The cases highlight the critical role of ferritin as a marker for underlying severe conditions. The clinical interpretation of ferritin levels and appropriate diagnostic workup are essential in identifying and managing these conditions to reduce morbidity and mortality. Ferritin levels should not be overlooked as merely an indicator of iron status or inflammation. Marked hyperferritinemia requires thorough investigation to differentiate between potential underlying conditions that may allow for more prompt recognition and management to reduce morbidity and mortality.

摘要

铁蛋白通常用作铁状态的标志物,有助于诊断缺铁性贫血。然而,它也是一种急性期反应物,在各种炎症状态下常升高。显著的高铁蛋白血症,定义为铁蛋白水平高于10000μg/L,可提示严重的潜在疾病,包括感染、心血管疾病如心力衰竭、内分泌疾病、自身免疫性疾病和恶性肿瘤。本病例报告从风湿病学角度强调了高铁蛋白血症的鉴别诊断和临床意义。这里有两个病例报告,说明铁蛋白在辅助诊断两种罕见疾病中的应用:成人斯蒂尔病(AOSD)和噬血细胞性淋巴组织细胞增生症(HLH)。第一个病例是一名37岁男性,出现瘙痒性皮疹、流感样症状、关节疼痛、发热和寒战。尽管多次到急诊科就诊,他的高铁蛋白血症仍达到88000μg/L,并且符合AOSD的山口标准。脉冲剂量类固醇治疗使症状迅速缓解。第二个病例是一名50岁女性,因反复腋窝皮肤感染出现败血症,需要转入重症监护病房。实验室检查发现高铁蛋白血症为39671μg/L,这对于区分风湿病学和血液学病因至关重要。进一步检查发现弥漫性大B细胞淋巴瘤。不幸的是,患者因病死亡。这些病例强调了铁蛋白作为潜在严重疾病标志物的关键作用。铁蛋白水平的临床解读和适当的诊断检查对于识别和管理这些疾病以降低发病率和死亡率至关重要。铁蛋白水平不应仅仅被视为铁状态或炎症的指标而被忽视。显著的高铁蛋白血症需要进行全面调查以区分潜在的潜在疾病,这可能有助于更迅速地识别和管理,以降低发病率和死亡率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/02a8/11450084/171c0b086a76/cureus-0016-00000068588-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/02a8/11450084/798a5db15f65/cureus-0016-00000068588-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/02a8/11450084/171c0b086a76/cureus-0016-00000068588-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/02a8/11450084/798a5db15f65/cureus-0016-00000068588-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/02a8/11450084/171c0b086a76/cureus-0016-00000068588-i02.jpg

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本文引用的文献

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Hemophagocytic lymphohistiocytosis and macrophage activation syndrome: two rare sides of the same devastating coin.噬血细胞性淋巴组织细胞增生症和巨噬细胞活化综合征:同一毁灭性病症的两种罕见表现。
Adv Rheumatol. 2024 Apr 16;64(1):28. doi: 10.1186/s42358-024-00370-2.
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Mortality and Associated Causes in Hemophagocytic Lymphohistiocytosis: A Multiple-Cause-of-Death Analysis in France.噬血细胞性淋巴组织细胞增生症的死亡率及相关病因:法国的多死因分析
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Differential Diagnosis of Hyperferritinemia in Critically Ill Patients.
危重症患者高铁蛋白血症的鉴别诊断
J Clin Med. 2022 Dec 27;12(1):192. doi: 10.3390/jcm12010192.
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Systemic Lupus Erythematosus With Hemophagocytic Lymphohistiocytosis: Is COVID-19 the Inciting Factor?系统性红斑狼疮合并噬血细胞性淋巴组织细胞增生症:新冠病毒是诱发因素吗?
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Beijing Da Xue Xue Bao Yi Xue Ban. 2021 Oct 18;53(5):921-927. doi: 10.19723/j.issn.1671-167X.2021.05.018.
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