The ability to detect and characterize atherosclerosis with targeted contrast agents may enable initiation of therapy for atherosclerotic lesions prior to becoming symptomatic. Since lipoproteins such as high-density lipoprotein (HDL) and low-density lipoprotein (LDL) play a critical role in the regulation of plaque biology through the transport of lipids into and out of atherosclerotic lesions, modifying HDL and LDL with radioisotopes for nuclear imaging, chelates for magnetic resonance imaging (MRI) or other possible contrast agents for computed tomography imaging techniques may aid in the detection and characterization of atherosclerosis. This review focuses on the literature employing lipoproteins as contrast agents for imaging atherosclerosis and the feasibility of this approach.
Fabry disease, an X-linked lysosomal storage disorder, is caused by the deficiency of the alpha-galactosidase A enzyme and the progressive accumulation of globotriaosylceramide in vascular endothelial cells. The multi-systemic manifestations of Fabry disease include cardiac, gastrointestinal, renal, and neuropathic complications. Renal dysfunction and ultimately end-stage renal disease occurs in classically affected males and in about 10-15% of female heterozygotes from classically affected families as a result of progressive glycosphingolipid accumulation. We report a case in which a female with a de novo GLA mutation donated a kidney to her sister prior to the diagnosis of symptomatic Fabry disease. The transplant recipient has progressed to graft failure and has been relisted for transplant. This case report demonstrates the need to screen potential kidney transplant donors and recipients for Fabry disease.
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