Pseudoxanthoma elasticum pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]
Overview
Pathophysiology
In PXE, the calcification (accumulation of calcium) and fragmentation of the elastin-containing fibers in connective tissue, but primarily in the midsized arteries.[1] Strong genetic linkage was found with mutations in the ABCC6 gene, but the exact mechanism by which this protein (which is a membrane transporter from the large ATP-binding cassette transporter family) influences the disease course is unknown; the protein is expressed in most organs, but mainly in the liver and kidney. It is unclear in what way this would lead to abnormalities in skin, eyes and blood vessels. It is thought that particular mutations do not cause a more severe or less severe form of the disease. Given the variations in age of onset and severity it is likely that other unknown risk factors (genetic and dietary) may be involved. Premature atherosclerosis is also associated with mutations in the ABCC6 gene, even in those without PXE.[2] A syndrome almost indistinguishable from hereditary PXE has been described in patients with hemoglobinopathies(sickle-cell disease and thalassemia) through a poorly understood mechanism.
References
- ↑ Gheduzzi D, Sammarco R, Quaglino D, Bercovitch L, Terry S, Taylor W, Ronchetti I (2003). "Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum". Ultrastructural pathology. 27 (6): 375–84. PMID 14660276.
- ↑ Trip MD, Smulders YM, Wegman JJ; et al. (2002). "Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease". Circulation. 106 (7): 773–5. PMID 12176944.