Diagnostic problems in acquired bone marrow failure syndromes

Excerpt

Acquired bone marrow (BM) failure syndromes are heterogeneous diseases characterized by cytopenias caused by a decrease in or malfunction of hematopoietic stem/progenitor cells (HSPCs). These syndromes include acquired aplastic anemia (AA), myelodysplastic syndromes (MDS), paroxysmal nocturnal hemoglobinuria (PNH), and acquired amegakaryocytic thrombocytopenia. Differential diagnosis can be difficult as these syndromes are primarily defined by cell morphology. Hemolytic PNH might at first seem easily distinguishable from other forms of bone marrow failure, since patients with PNH present with unique symptoms and laboratory findings, such as hemoglobinuria and a marked increase in the serum LDH levels. In reality, however, even experienced hematologists often misdiagnose PNH with moderate hemolysis of MDS. This is because PNH patients with BM failure exhibit significant signs of dysplasia in immature BM cells, which cannot be discriminated from MDS by experienced pathologists [1]. Misdiagnosis leads to inappropriate management of PNH patients, such as red blood cell transfusions alone without eculizumab therapy and allogenic stem cell transplantation from unrelated donors. Some patients may be left untreated until they develop life-threatening thromboembolism events, such as cerebral infarction. …