Oo Thein Hlaing, Rojas-Hernandez Cristhiam Mauricio
Section of Benign Hematology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA.
Discov Med. 2017 Sep;24(131):107-115.
Pernicious anemia (PA) is an autoimmune disease of multifactorial etiologies characterized by autoimmune chronic atrophic gastritis, cobalamin deficiency (CD) due to defective absorption of dietary cobalamin from the terminal ileum, and by the presence of intrinsic factor and parietal cell antibodies. PA is a very common cause of CD-related anemia worldwide. Despite advances in the understanding molecular biology and pathophysiology of PA, the diagnosis of PA remains challenging in many circumstances for many clinicians because of its diverse clinical manifestations and the limitations of currently available diagnostic tools. Diagnostic dilemmas could occur when patients with PA present with spuriously normal or high cobalamin levels, normocytic or microcytic anemia, non-anemic macrocytosis, autoimmune hemolytic anemia, pseudo-thrombotic microangiopathy, hyperhomocysteinemia-associated thromboembolism, pseudoleu-kemia, bone marrow failure, bone marrow ring sideroblasts, and neurologic manifestations without anemia or macrocytosis. Herein, we provide an overview of the challenging clinical presentations of PA, diagnostic approach, and management.
恶性贫血（PA）是一种病因多因素的自身免疫性疾病，其特征为自身免疫性慢性萎缩性胃炎、由于膳食钴胺素从回肠末端吸收缺陷导致的钴胺素缺乏（CD），以及存在内因子和壁细胞抗体。PA是全球范围内与CD相关贫血的常见病因。尽管在PA的分子生物学和病理生理学理解方面取得了进展，但由于其临床表现多样以及现有诊断工具的局限性，PA的诊断在许多情况下对许多临床医生来说仍然具有挑战性。当PA患者出现钴胺素水平假性正常或升高、正细胞性或小细胞性贫血、非贫血性大细胞增多、自身免疫性溶血性贫血、假性血栓性微血管病、高同型半胱氨酸血症相关的血栓栓塞、假性白血病、骨髓衰竭、骨髓环形铁粒幼细胞以及无贫血或大细胞增多的神经系统表现时，可能会出现诊断困境。在此，我们概述了PA具有挑战性的临床表现、诊断方法和管理。
