Highlights & Basics
- Paroxysmal nocturnal hemoglobinuria (PNH) is a hemolytic anemia characterized by evidence of intravascular hemolysis such as hemoglobinuria and elevation of plasma lactate dehydrogenase.
- Diagnosis can be made by flow cytometry of granulocytes and red blood cells, looking for the lack of the glycosylphosphatidylinositol anchor or of proteins dependent on it for attachment to the cell membrane.
- Complicated by thrombosis, particularly of hepatic and other intra-abdominal veins, cerebral veins, and other usual and unusual venous sites.
- Treatment includes monoclonal antibodies which inhibit complement protein C5, and pegcetacoplan for patients who may not respond well to C5 complement blockade.
- May arise in patients with or recovering from aplastic anemia. It may also manifest with cytopenias that are the result of marrow hypoproduction.
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Citations
Parker CJ. Update on the diagnosis and management of paroxysmal nocturnal hemoglobinuria. ASH Education Book 2016;2016(1):208-16. [Abstract][Full Text]
National Organization for Rare Disorders. NORD rare disease report: paroxysmal nocturnal hemoglobinuria. January 2023 [internet publication].[Full Text]
Dezern AE, Borowitz MJ. ICCS/ESCCA Consensus Guidelines to detect GPI‐deficient cells in Paroxysmal Nocturnal Hemoglobinuria (PNH) and related Disorders Part 1 - Clinical Utility. Cytometry B Clin Cytom. 2018;94(1):16-22.[Abstract][Full Text]
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53. Peffault de Latour R, Roeth A, Kulasekararaj A, et al. Oral monotherapy with iptacopan, a proximal complement inhibitor of factor B, has superior efficacy to intravenous terminal complement inhibition with standard of care cculizumab or ravulizumab and favorable safety in patients with paroxysmal nocturnal hemoglobinuria and residual anemia: results from the randomized, active-comparator-controlled, open-label, multicenter, phase III apply-PNH study. Blood. 2022;140(suppl 2):LBA-2.[Full Text]
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