In this patient, the PNH likely contributed to her multiple strokes. Patients with PNH often present with a normocytic, normochromic anemia, although the leading cause of death is actually complications related to intravascular thrombosis. The absence of FLAER on WBCs helps identify PNH clone during flow cytometric analysis CD55 and CD59 protect the cell from complement mediated hemolysis, and their absence in PNH makes red cells susceptible to compliment mediated hemolysis.įLAER- Flouroscent AERolysin is a flourochrome conjugated molecule that is a highly specific ligand for GPI on white blood cells. These anchor proteins are necessary for CD55 and CD59 to bind to the cell membrane. Inactivation of PIGA results in the inability of the cell to synthesize GPI anchor proteins. Paroxysmal nocturnal hemoglobinuria is an acquired clonal hematopoietic stem cell disorder resulting from a somatic mutation of the PIGA gene which is located on chromosome X. She was started on eculizumab (terminal complement inhibitor) with improvement of anemia over the next few weeks. Her CBC is as follows:įlow cytometry (see below) was performed which identified a large paroxysmal nocturnal hemoglobinuria (PNH) clone.
She was given IV steroids with some improvement in her blood counts. Her hemoglobin dropped to 5.7 during a recent hospital admission which was thought to be secondary to a viral infection. She had a longstanding history of a coombs positive hemolytic anemia.
Clinical History: This is a 66 year old woman with a history of type 2 diabetes, hepatitis C, and multiple cerebral vascular accidents.
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