Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, clonal, complement-mediated blood disease. It arises from somatic mutations in the PIGA gene, which encodes phosphatidylinositol N-acetylglucosaminyltransferase subunit A, in one or more hematopoietic stem cell clones. Although symptoms can be nonspecific, earning the condition the name "the great impersonator," PNH can manifest as hemolytic anemia, smooth muscle dystonia, renal insufficiency, thrombophilia, and potentially bone marrow failure. There are three types of PNH: classic PNH; PNH with another bone marrow disorder; and subclinical PNH. In subclinical disease, there is no evidence of hemolysis, so it is critical to reassess patients at regular intervals to monitor PNH clone size.
Occurrence of PNH is estimated to be 15.9 individuals per million worldwide, though the condition's somatic symptoms may lead to underdiagnosis. PNH usually presents in early adulthood, and its chronic nature can have a significant impact on quality of life.
Can you separate fact from fiction when it comes to PNH? Test your knowledge with this quiz.
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Cite this: Karl J. D'Silva. Fact or Fiction: Paroxysmal Nocturnal Hemoglobinuria - Medscape - Dec 26, 2023.
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