Costanzo Giulia, Sambugaro Giada, Mandis Giulia, Vassallo Sofia, Scuteri Angelo
S.C. di Medicina Interna, Policlinico Universitario Monserrato "Duilio Casula"-AOU di Cagliari, 09123 Cagliari, Italy.
Scuola Specializzazione Allergologia e Immunologia Clinica, Universita' di Cagliari, 09124 Cagliari, Italy.
J Clin Med. 2023 Mar 6;12(5):2059. doi: 10.3390/jcm12052059.
Vitamin B12 (cobalamin CBL) is a water-soluble vitamin required to form hematopoietic cells (red blood cells, white blood cells, and platelets). It is involved in the process of synthesizing DNA and myelin sheath. Deficiencies of vitamin B12 and/or folate can cause megaloblastic anemia (macrocytic anemia with other features due to impaired cell division). Pancytopenia is a less frequent exordium of severe vitamin B12 deficiency. Vitamin B12 deficiency can also cause neuropsychiatric findings. In addition to correcting the deficiency, an essential aspect of management is determining the underlying cause because the need for additional testing, the duration of therapy, and the route of administration may differ depending on the underlying cause.
Here, we present a series of four patients hospitalized for megaloblastic anemia (MA) in pancytopenia. All patients diagnosed with MA were studied for a clinic-hematological and etiological profile.
All the patients presented with pancytopenia and megaloblastic anemia. Vitamin B12 deficiency was documented in 100% of cases. There was no correlation between the severity of anemia and deficiency of the vitamin. Overt clinical neuropathy was present in none of the cases of MA, while subclinical neuropathy was seen in one case. The etiology of vitamin B12 deficiency was pernicious anemia in two cases and low food intake in the remaining cases.
This case study emphasizes the role of vitamin B12 deficiency as a leading cause of pancytopenia among adults.
维生素B12(钴胺素,CBL)是一种水溶性维生素,是形成造血细胞(红细胞、白细胞和血小板)所必需的。它参与DNA和髓鞘的合成过程。维生素B12和/或叶酸缺乏可导致巨幼细胞贫血(由于细胞分裂受损导致的具有其他特征的大细胞贫血)。全血细胞减少是严重维生素B12缺乏较少见的首发症状。维生素B12缺乏还可导致神经精神症状。除了纠正缺乏外,治疗的一个重要方面是确定潜在病因,因为根据潜在病因,所需的额外检查、治疗持续时间和给药途径可能会有所不同。
在此,我们报告了一系列因全血细胞减少性巨幼细胞贫血(MA)住院的4例患者。所有诊断为MA的患者均进行了临床血液学和病因学分析。
所有患者均表现为全血细胞减少和巨幼细胞贫血。100%的病例记录有维生素B12缺乏。贫血严重程度与维生素缺乏之间无相关性。MA病例中无一例出现明显的临床神经病变,而1例出现亚临床神经病变。维生素B12缺乏的病因在2例为恶性贫血,其余病例为食物摄入不足。
本病例研究强调了维生素B12缺乏作为成人全血细胞减少主要原因的作用。