Pernicious anemia: a myelodysplastic syndrome look-alike

Abstract

Severe cytopenias (anemia, thrombocytopenia, neutropenia or any combination of these) are common causes of ER visits and hospital admissions. In adults, the etiology of cytopenias has a broad differential diagnosis including vitamin and mineral deficiencies, autoimmune conditions, infections, bone marrow failure disorders, or malignancies. We present a case of severe anemia and thrombocytopenia who was initially diagnosed with myelodysplastic syndrome (MDS) based on the results of a bone marrow biopsy. However, subsequent workup revealed that she had B12 deficiency secondary to pernicious anemia. This case highlights how performing a bone marrow biopsy without investigating secondary causes of cytopenia and bone marrow dysplasia can lead to a false diagnosis of MDS. Confirmation of the appropriate diagnosis spared the patient emotional trauma and unnecessary treatment with hypomethylating agents.

Anemia during Pregnancy and Its Prevalence

“…When this is eventually depleted, pernicious anemia begins to develop. The amount of vitamin B12 required to fulfill the demands of a body depends on age [13]. The most serious outcome of B12 deficiency is diminished development and function of neurological processes throughout the lifecycle.…”

Severe B12 Deficiency Causing a Maturation Defect Mimicking Myelodysplastic Syndrome With Excess Blasts

“…However, it can have diverse clinical manifestations ranging from asymptomatic to severe neurological and hematological abnormalities that lead to death if untreated [2]. Despite its prevalence, diagnosing B12 deficiency can be challenging due to its varied presentation, particularly when it mimics other hematological disorders like myelodysplastic syndrome (MDS) [3][4][5]. Vitamin B12 deficiency can mimic MDS due to its effects on the bone marrow, causing stunted hematopoiesis leading to the production of large, abnormally nucleated red blood cells [3][4][5].…”

“…Despite its prevalence, diagnosing B12 deficiency can be challenging due to its varied presentation, particularly when it mimics other hematological disorders like myelodysplastic syndrome (MDS) [3][4][5]. Vitamin B12 deficiency can mimic MDS due to its effects on the bone marrow, causing stunted hematopoiesis leading to the production of large, abnormally nucleated red blood cells [3][4][5]. In B12 deficiency, the bone marrow produces megaloblasts that resemble the dysplastic cells, as well as cause leukopenia and thrombocytopenia, all seen with MDS [3][4][5].…”

“…Vitamin B12 deficiency can mimic MDS due to its effects on the bone marrow, causing stunted hematopoiesis leading to the production of large, abnormally nucleated red blood cells [3][4][5]. In B12 deficiency, the bone marrow produces megaloblasts that resemble the dysplastic cells, as well as cause leukopenia and thrombocytopenia, all seen with MDS [3][4][5]. Unlike MDS, which requires treatment with hypomethylating agents, the consequences of B12 deficiency can be harmlessly reversed with simple supplementation [3][4][5][6][7].…”

“…In B12 deficiency, the bone marrow produces megaloblasts that resemble the dysplastic cells, as well as cause leukopenia and thrombocytopenia, all seen with MDS [ 3 - 5 ]. Unlike MDS, which requires treatment with hypomethylating agents, the consequences of B12 deficiency can be harmlessly reversed with simple supplementation [ 3 - 7 ]. This emphasizes the importance of making the correct diagnosis despite an atypical presentation, which the following case illustrates.…”