病例报告血液学

Hereditary hyperferritinemia and cataracts syndrome (HHCS) without iron overload is a syndrome first identified less than 3 decades ago. While investigators have dissected the gene where several responsible mutations reside, it remains a relatively unknown genetic disorder to clinicians. The result is often an expensive, invasive evaluation for iron overload, followed by a well-intended prescription for a series of phlebotomies that delivers morbidity instead of benefit. We present a father with an elevated ferritin and heterozygosity for H63D HFE mutation whose clinical course followed this path. His treatment rendered him symptomatic from iron deficiency with no reduction in his ferritin. On re-evaluation, a review of his past medical history clarified the cataract surgery noted in his record had occurred at a young age. Furthermore, one of his daughters required cataract surgery as a teenager. With this information, we strongly suspected HHCS. His phlebotomies were discontinued, and within weeks, his iatrogenic iron deficiency resolved and his health returned to normal.

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28岁的白人男性桥本disease and vitiligo presented with two weeks of dizziness on exertion following pharyngitis which was treated with prednisone 40 mg by mouth once a day for five days. Initial workup revealed anemia, elevated lactate dehydrogenase (LDH), and low haptoglobin. He underwent workup for causes of hemolytic anemia which was remarkable for a peripheral blood smear with hypersegmented neutrophils and low vitamin B12 levels concerning for pernicious anemia. Parietal cell and intrinsic factor antibodies were negative, and he then underwent an esophagogastroduodenoscopy with biopsy. The biopsy was negative forHelicobacter pylori和免疫组化染色均提示萎缩性胃炎的。他每天B12 1000微克肌内注射开始对维生素。他的血红蛋白，LDH，并结合珠蛋白标准化。由于缺乏壁细胞抗体和内在因素的抗体，这是血清反应阴性的恶性贫血的罕见的情况。

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患有镰状细胞病（SCD）贫血和痛苦血管闭塞危机（VOC），有时需要输血受到影响。延迟溶血性输血反应（DHTR）是在SCD和模拟VOC观察到罕见的威胁生命的并发症。我们描述一个女性患者SCD发生期间DHTR开发继前两三次手术。此前有计划的扁桃体切除术，她接受输血，三天后手术出现严重的溶血以及疼痛和呼吸道症状。对VOC的怀疑，她获得了额外输血，成为血流动力学不稳定，她的溶血性贫血加重。渐渐地，她恢复两周后能出院;DHTR没有怀疑。十六个月后，关节造形术是由于股骨头缺血性坏死进行，她再次术前输血。类似于最初的手术，她出现症状和VOC的迹象后三天，但这个时候，DHTR被怀疑和进一步输血被扣留。虽然免疫抑制药物的没有缓解病情，她与darbepoietin，利妥昔单抗，依库珠单抗和综合治疗好转。 Six months later, a second arthroplasty was performed uneventfully after prophylaxis with rituximab and without transfusion. DHTR should be considered in the presence of severe, unexplained hemolysis following a recent transfusion, and additional transfusions in this setting should be given only on vital indication.

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背景. With the rise in the use of direct oral anticoagulants (DOACs), more hemorrhagic complications are being encountered. Since the first description of a case of spontaneous spinal epidural hematoma (SSEH) related to the utilization of DOACs in 2012, there have been few reports describing a similar association. However, no cases so far have reported an association between SSEHs and apixaban.Case Description：一名76岁的老太太，非瓣膜性房颤病史，呈现渐进的左下和上肢无力的一个新开始。她报告左腿背部疼痛和麻木到膝盖左臂到肩膀麻木一起。一种CT扫描颈部的是暗示从C2-C3级至C6-C7延伸的硬膜外血肿。由于患者是在阿哌沙班的时候，手术治疗被推迟了两天以减少术中出血的风险。九天后，她出院。她的身体检查是从上表现几乎没有变化，除了疼痛和电机功率最小的改善在她的左下肢1/5至2/5远端的分辨率。Conclusions. Spinal hematomas represent surgical emergencies with earlier intervention portending better outcome. Based on the few case reports that point to DOACs as a potential culprit, it appears that a high suspicion index resulting in earlier SSEH diagnosis and intervention is crucial for improved neurological outcome and recovery. Prompt diagnosis remains a challenge, especially that SSEH can mimic cerebrovascular accidents.

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我们报告一名74岁男子的情况与分化在右鼻腔簇（CD）7阳性弥漫性大B细胞淋巴瘤（DLBCL）。流式细胞术分析显示在肿瘤细胞CD7和CD20阳性。该患者接受R-CHOP加局部放射疗法，因为正电子发射断层扫描计算机断层扫描的6个周期之后的R-CHOP显示鼻内病变。患者在放射治疗后达到完全缓解（CR）。CD7阳性DLBCL的频率是罕见的，只有11例，随访的临床当然迄今已报告。CR或部分反应在11例8指出接收利妥昔单抗联合化疗后。总共9 12的情况下所涉及的结外病变的发展，从而发生如3例鼻内肿瘤。通过进一步的情况下，积累研究的临床特点是很重要的。

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Epstein–Barr virus infection is most commonly asymptomatic in the acute setting, where the end result of infection is the adoption of a viral latency phenotype. The virus can reactivate later in life leading to the abnormal proliferation of the infected B, T, or NK cells. Hereby, we report a 71-year-old female with seronegative rheumatoid arthritis who presented with massive splenomegaly, pancytopenia, and positivization of antibodies against double-stranded deoxyribonucleic acid (dsDNA) after initiation of the anti-tumor necrosis factor (TNF) golimumab. The diagnosis of EBV-associated lymphoproliferative disorder (LPD) was demonstrated by elevation of the plasmatic EBV viral load. Withdrawal of the anti-TNF and treatment with the anti-CD20 antibody rituximab were able to revert the clinical abnormalities. EBV-associated LPDs are described after initiation of other anti-TNF agents, such as infliximab, but no reports of golimumab-associated EBV LPD are found in the literature. The mechanisms for this occurrence are not clear, but these are known to involve expression of a panel of viral proteins specific to the viral latency phenotypes.

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