Attack of the Clones: A Patient With Untreated Aplastic Anemia Presenting With Classical Paroxysmal Nocturnal Hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired X-linked, clonal hematopoietic stem cell disease. Patients with PNH may complain of vague symptomatology that contributes to the challenge of its diagnosis. This is especially true in the clinical context of a coinciding hematologic disorder. Aplastic anemia (AA) is an additional immune-mediated illness that results in the destruction of hematopoietic precursors and pancytopenia. The authors encourage screening for PNH clones in patients initially diagnosed with AA, treating underlying hematologic disease to prevent clonal expansion, and further research to investigate the effectiveness of eculizumab in an unusual classical PNH secondary to AA with hypercellular bone marrow.

Automated summary

Paroxysmal nocturnal hemoglobinuria (PNH) is a acquired X-linked, clonal hematopoietic stem cell disease with vague symptomatology, which poses difficulties in diagnosis, especially when coexisting with other hematologic disorders. The authors encourage screening for PNH clones in patients initially diagnosed with aplastic anemia (AA), treating underlying hematologic disease to prevent clonal expansion, and further research on the effectiveness of eculizumab in an unusual classical PNH secondary to AA with hypercellular bone marrow.