Mechanisms of vasculopathy in sickle cell disease and thalassemia

CR Morris - ASH Education Program Book, 2008 - ashpublications.org
ASH Education Program Book, 2008ashpublications.org
Many mechanisms contribute to the complex pathophysiology of sickle cell disease (SCD),
with dysfunction of the vascular endothelium as a unifying theme. Specifically, hemolysis-
associated low arginine and nitric oxide (NO) bioavailability, amplified by NO synthase
uncoupling, elevated arginase activity, superoxide production, oxidative stress,
accumulation of arginine analogs such as asymmetric dimethylarginine, ischemia-
reperfusion injury, inflammation, apolipoprotein A-1 depletion, and a hypercoagulable state …
Abstract
Many mechanisms contribute to the complex pathophysiology of sickle cell disease (SCD), with dysfunction of the vascular endothelium as a unifying theme. Specifically, hemolysis-associated low arginine and nitric oxide (NO) bioavailability, amplified by NO synthase uncoupling, elevated arginase activity, superoxide production, oxidative stress, accumulation of arginine analogs such as asymmetric dimethylarginine, ischemia-reperfusion injury, inflammation, apolipoprotein A-1 depletion, and a hypercoagulable state are significant mechanisms contributing to endothelial dysfunction. Genetic polymorphisms also influence disease severity. Clearly the variable spectrum of disease is the consequence of multiple events and genetic susceptibility that go beyond the occurrence of a single amino acid substitution in the beta globin chain of hemoglobin. Recent studies begin to demonstrate overlap among these seemingly unrelated processes. Impaired NO bioavailability represents the central feature of endothelial dysfunction, and is a common denominator in the pathogenesis of vasculopathy in SCD. The consequences of decreased NO bioavailability include endothelial cell activation, upregulation of the potent vasoconstrictor endothelin-1, vasoconstriction, platelet activation, increased tissue factor, and activation of coagulation, all of which ultimately translate into the clinical manifestations of SCD. Evidence supporting vasculopathy subphenotypes in SCD, including pulmonary hypertension, priapism, cutaneous leg ulceration, and stroke, will be reviewed and relevance to other hemolytic disorders including the thalassemia syndromes will be considered.
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