Hidden myelodysplastic syndrome (MDS): A prospective study to confirm or exclude MDS in patients with anemia of uncertain etiology

Abstract

Introduction Diagnosis of myelodysplastic syndromes (MDSs) when anemia is the only abnormality can be complicated. The aim of our study was to investigate the primary causes of anemia and/or macrocytosis of uncertain etiology. Methods We conducted a multicenter, prospective study over 4 months in three hematology laboratories. In step 1, we used an automated informatics system to screen 137 453 hemograms for cases of anemia and/or macrocytosis (n = 2702). In step 2, we excluded all patients whose anemia appeared to be due to a known cause. This left 290 patients had anemia of uncertain etiology. In step 3, we conducted further investigations, including a peripheral blood smear, and analysis of iron, vitamin B12, folate, and thyroid hormone levels. Results A differential diagnosis was obtained in 139 patients (48%). The primary causes of anemia were iron deficiency (n = 59) and megaloblastic anemia (n = 39). In total, 25 hematologic disorders were diagnosed, including 14 patients with MDS (56%). The median age of MDS patients was 80 years, 12 had anemia as an isolated cytopenia, and most (n = 10) had lower‐risk disease (IPSS‐R ≤ 3.5). SF3B1 mutations were most frequent (n = 6) and correlated with the presence of ring sideroblasts (100%) and associated with better prognosis (P = 0.001). Conclusions Our prospective, four‐step approach is an efficient and logical strategy to facilitate the diagnosis of MDS on the basis of unexplained anemia and/or macrocytosis, and may allow the early diagnosis of the most serious causes of anemia. Molecular analysis of genes related to MDS could be a promising diagnostic and prognostic approach.

How I investigate acquired megaloblastic anemia

“…Patients may present with severe neurologic features and an elevated lactate dehydrogenase (LDH) with fragmented RBCs, concerning for thrombotic thrombocytopenic purpura (TTP), 14,15 or may have severe pancytopenia with bone marrows showing hypercellularity and morphologic atypia, raising concern for myelodysplastic syndrome (MDS) or even acute leukemia. 16 Consequently, the diagnosis of MA can be missed in some cases, as features can be quite complex and heterogeneous, and vitamin B 12 concentrations may not factor into initial workups given nonspecific symptomatology. In addition, issues may arise in laboratory testing including false normal cobalamin concentrations, adding to this diagnostic challenge.…”

A hospital-based study of severe anemia in adults in Eastern India

“…30 Bastida JM et al, studied patients with anemia of uncertain etiology and found hematologic disorders in 25 patients of which 14 were diagnosed with MDS. 31 In this study, MDS was diagnosed in 3 patients and aplastic anemia in one patient. Multifactor etiology is frequently found as causation of anemia and Petrosyan I et al, reported 46.3% of patients having anemia of multifactorial etiology in their study.…”

<p>Evaluation of Hypoglycemic Therapy Through Physical Exercise in n5STZ-Induced Diabetes Rats</p>

“…Mostly, alterations in these values occur due to deficiency anemia, kidney neoplasms, and medullar dysplasia. 45,46 According to what has been thoroughly demonstrated and discussed here, chronic physical exercise resulted in increased BDNF in blood plasma of trained diabetic animals, which promoted significant improvement of the metabolic syndrome related to DM. This physiological condition with a good prognosis, possibly associated with the increase in this factor, could be verified by significant alterations in biochemical and hematological profiles that resulted in physiological improvement of the organism against harmful effects of diabetes mellitus.…”