Clinical manifestations of paroxysmal nocturnal hemoglobinuria: present state and future problems.
The clinical pathology of paroxysmal nocturnal hemoglobinuria (PNH) involves 3 complications: hemolytic anemia, thrombosis, and hematopoietic deficiency. The first 2 are clearly the result of the cellular defect in PNH, the lack of proteins anchored to the membrane by the glycosylphosphatidylinositol anchor. The hemolytic anemia results in syndromes primarily related to the fact that the hemolysis is extracellular. Thrombosis is most significant in veins within the abdomen, although a number of other thrombotic syndromes have been described. The hematopoietic deficiency may be the same as that in aplastic anemia, a closely related disorder, and may not be due to the primary biochemical defect. The relationship to aplastic anemia suggests a nomenclature that emphasizes the predominant clinical manifestations in a patient. This relationship does not explain cases that appear to be related to myelodysplastic syndromes or the transition of some cases of PNH to leukemia. Treatment, except for bone marrow transplantation, remains noncurative and in need of improvement.
Rosse
Wendell F
WF
Division of Hematology, Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA. rosse001@mc.duke.edu
Nishimura
Junichi
J
D000741:Anemia, Aplastic / Q000209:etiology; D000743:Anemia, Hemolytic / Q000150:complications / Q000209:etiology / Q000628:therapy; D001855:Bone Marrow Diseases / Q000209:etiology; D006410:Hematopoiesis / Q000502:physiology; D006457:Hemoglobinuria, Paroxysmal / Q000145:classification / Q000150:complications* / Q000628:therapy; D006801:Humans; D020246:Venous Thrombosis / Q000188:drug therapy / Q000209:etiology / Q000473:pathology