Department of Hematology, Aberdeen Royal Infirmary Hospital, The University of Aberdeen, NHS Grampian, Scotland, UK.
Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, USA.
J Evid Based Med. 2021 May;14(2):161-169. doi: 10.1111/jebm.12435. Epub 2021 May 20.
Pernicious anemia (PA) is the most common cause of vitamin B12 (cobalamin) deficiency anemia in the world. It is an autoimmune disease, comprising of salient features of autoimmune chronic atrophic gastritis (CAG) and cobalamin deficiency (CD). Although the anemia was first described as pernicious, it may well be controlled with vitamin B12 replacement. The onset and progression of PA is often insidious. Alternatively, patients may have no anemic symptoms since they become acclimatized to the subtle nature of the disease. Oftentimes, there is a possibility that the underlying disease may be missed unless a full blood count (FBC) is investigated, leading to hindrance in the treatment journey. Diagnostic challenges remain tangible for many practicing clinicians, since there is lack of reliable cobalamin assays to diagnose CD as well as clinical mimics, which simulate many other hematological conditions, such as myelodysplastic syndrome, acute leukemia, sideroblastic anemias, bone marrow failure states, thrombotic microangiopathy, and thromboembolism. Moreover, prompt recognition of the symptoms of CD is also vital, because some neurologic sequalae may become irreversible despite replenishing cobalamin. Herein, we discuss a literature review on the pathophysiology, challenging clinical presentations and diagnostic difficulties of PA. Since the cobalamin replacement therapy for PA is straightforward, it will not be discussed in this review.
恶性贫血（PA）是世界上最常见的维生素 B12（钴胺素）缺乏性贫血的原因。它是一种自身免疫性疾病，具有自身免疫性慢性萎缩性胃炎（CAG）和钴胺素缺乏（CD）的显著特征。尽管贫血首先被描述为恶性贫血，但它很可能通过维生素 B12 替代治疗来控制。PA 的发病和进展常常是隐匿的。或者，患者可能没有贫血症状，因为他们已经适应了疾病的微妙性质。通常情况下，除非进行全血细胞计数（FBC）检查，否则可能会错过潜在疾病，从而阻碍治疗进程。由于缺乏可靠的钴胺素检测方法来诊断 CD 以及临床模拟物，这些模拟物模拟了许多其他血液学状况，例如骨髓增生异常综合征、急性白血病、铁幼粒细胞性贫血、骨髓衰竭状态、血栓性微血管病和血栓栓塞等，许多临床医生仍然面临着诊断上的挑战。此外，及时识别 CD 的症状也至关重要，因为尽管补充钴胺素，一些神经后遗症可能仍然不可逆转。本文讨论了 PA 的病理生理学、具有挑战性的临床表现和诊断困难的文献综述。由于 PA 的钴胺素替代治疗很简单，因此不在本次综述中讨论。
