B12 deficiency leading to marked poikilocytosis versus true schistocytosis, a pernicious problem

摘要

Abstract Severe vitamin B12 deficiency is caused most commonly by autoimmune atrophic gastritis leading to loss of intrinsic factor. Vitamin B12 deficiency leading to megaloblastic anemia and demyelinating central nervous system disease is well known; however, a rare presentation of B12 deficiency described as pseudothrombotic microangiopathy is not well known. This complication presents with signs of mechanical hemolysis, elevated lactate dehydrogenase (LDH), thrombocytopenia, and a low reticulocyte count, which can be incorrectly diagnosed as thrombotic thrombocytopenic purpura and managed incorrectly. Decreased reticulocyte count and an LDH >2500IU/L is more commonly seen in B12 deficiency. However, recognizing the differences in marked poikilocytosis can be challenging, as seen with megaloblastic changes and true schistocytosis. To illustrate the challenge in differentiating between megaloblastic changes and true schistocytosis, we present the case of a 27-year-old woman who presented to her physician for symptomatic anemia and complaints of nausea, vomiting, and loose stool. She had a hemoglobin of 5.1g/dL, platelet count of 39×10 9 /L, LDH of 9915IU/L, haptoglobin below assay limit, and a reticulocyte count of 2.5. Peripheral smear showed macrocytic anemia, rare hypersegmented neutrophils, and schistocytes. Vitamin B12 level was less than 50pg/mL, methylmalonic acid was 0.33μmol/L, anti-parietal cell antibody was >1:640, and intrinsic factor blocking antibody was positive—confirming the diagnosis of pernicious anemia. While hospitalized, she was treated with vitamin B12 1000μg intramuscular injections daily and thereafter continued with monthly injections, which ultimately resolved her severe macrocytic anemia. >