全血细胞减少症是一种复杂的医学疾病,其特征是红细胞(RBC)水平降低,白细胞(WBC),和血小板(PLT)。它可能是由生产受损引起的,外围破坏,或两者的组合。全血细胞减少症的原因从可逆因素如感染和药物反应到不可逆的疾病。维生素B12缺乏是一种显著的可逆原因,由于储存的储备,可能需要数年才能在成人中显现出来。然而,由吸收受损引起的缺陷,特别是由于缺乏内在因素(IFs),会在两到五年内导致快速恶化。一名健康的39岁男性,有运动生活方式,出现头晕等症状,恶心,呕吐,心悸,昏倒了几天。这些症状之前有数周的持续身体疼痛,头痛,弱点,每天发烧,发冷,和盗汗。生命体征稳定。体格检查显示颌下和颈浅区结膜苍白和淋巴结肿大。最初的血液检查显示正常细胞性贫血(Hgb4.9,MCV80),白细胞减少症(2.99),血小板减少症(142),和升高的肝酶(AST199,ALT96和2.04的总胆红素)。外周涂片显示泪滴细胞和低色素细胞。最初的印象是恶性血液病,包括但不限于白血病,淋巴瘤或骨髓纤维化的临床表现,如B症状,如盗汗,颈部淋巴结病,和主观的日常发烧,以及全血细胞减少症.患者接受了生理盐水推注和两个单位包装的红细胞输注。胸部CT扫描,腹部,骨盆未见腺病或脾肿大。尽管最初的临床评估指出了潜在的血液系统恶性肿瘤,全面测试,包括SPEP,网织红细胞计数/分数,血清叶酸,和血清维生素B12,显示只有严重的维生素B12缺乏,水平低于150,存在IF抗体。治疗包括强化患者维生素B12注射,然后是详细的门诊治疗方案。患者连续七天完成每日剂量的维生素B12注射,然后在接下来的四周内每周注射一次。随后的实验室结果表明,WBC计数增加至8.39,Hgb水平增加至13.2,PLT计数增加249,表明对维生素B12替代疗法的持续阳性反应。总之,全血细胞减少症构成了诊断挑战,需要仔细评估患者数据并进行全面检测.维生素B12缺乏,其中包括恶性贫血(PA),是要考虑的可逆因素之一。在选择骨髓活检等更具侵入性的措施之前,这方面具有重要意义。首先需要考虑营养缺乏是全血细胞减少症的差异,即使在没有典型的维生素B12缺乏的迹象(如大细胞增多和嗜中性粒细胞过度分段)和存在令人信服的临床指征指出血液系统恶性肿瘤的情况下。
Pancytopenia is a complex medical condition characterized by decreased levels of red blood cells (RBCs), white blood cells (WBCs), and platelets (PLTs). It can arise from impaired production, peripheral destruction, or a combination of both. The causes of pancytopenia range from reversible factors like infections and medication reactions to irreversible conditions. Vitamin B12 deficiency is a notable reversible cause that can take years to manifest in adults due to stored reserves. However, deficiencies caused by impaired absorption, especially due to the lack of intrinsic factors (IFs), can lead to rapid deterioration within two to five years. A healthy 39-year-old male with an athletic lifestyle presented with symptoms such as dizziness, nausea, vomiting, palpitations, and fainting over a few days. These symptoms were preceded by weeks of persistent body aches, headaches, weakness, daily fevers, chills, and night sweats. Vital signs were stable. The physical examination revealed conjunctival pallor and lymphadenopathy in the submandibular and superficial cervical regions. Initial blood tests showed normocytic anemia (Hgb 4.9, MCV 80), leukopenia (2.99), thrombocytopenia (142), and elevated liver enzymes (AST 199, ALT 96, and total bilirubin of 2.04). The peripheral smear showed tear-drop cells and hypochromic cells. The initial impression was hematologic malignancy, including but not limited to leukemia, lymphoma, or myelofibrosis given clinical findings such as B-symptoms like night sweats, neck lymphadenopathy, and subjective daily fever, along with pancytopenia. The patient received a bolus of normal saline and a transfusion of two units of packed RBCs. CT scans of the chest, abdomen, and pelvis showed no adenopathy or splenomegaly. Although initial clinical assessment pointed toward a potential hematologic malignancy, comprehensive testing, including SPEP, reticulocyte count/fraction, serum folate, and serum vitamin B12, revealed only severe vitamin B12 deficiency, with a level of less than 150, with the presence of IF antibodies. Treatment involved intensive in-patient vitamin B12 injections followed by a detailed outpatient regimen. The patient completed a daily dose of vitamin B12 injections for seven consecutive days, followed by weekly injections for the next four weeks. Subsequent laboratory results demonstrated an increase in WBC count to 8.39, Hgb level to 13.2, and PLT count of 249, indicating a continued positive response to the vitamin B12 replacement therapy. In summary, pancytopenia poses a diagnostic challenge that demands careful evaluation of patient data and comprehensive testing. Vitamin B12 deficiency, which encompasses pernicious anemia (PA), is among the reversible factors to consider. This aspect holds significance before opting for more invasive measures like a bone marrow biopsy. Nutritional deficiencies need to be considered first as differentials in pancytopenia, even in the absence of typical signs of vitamin B12 deficiency (like macrocytosis and hypersegmented neutrophils) and in the presence of compelling clinical indications pointing to a hematologic malignancy.