Carotid strain measurement in patients with pseudoxanthoma elasticum – Hint for a different pathomechanism?

Passon, Sebastian Gorgonius; Küllmar, V; Blatzheim, Anna Katharina; Pausewang, Kristin Solveig; Stumpf, Max Jonathan; Hendig, Doris; Gliem, Martin; Pingel, Simon; Schueler, Robert; Skowasch, Dirk; Schahab, Najib; Nickenig, Georg; Schaefer, Christian

doi:10.5582/irdr.2018.01004

Cited by 5 publications

(1 citation statement)

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“…Arterial calcification is one of the main phenotypic hallmarks of PXE [ 16 ], affecting most parts of the arterial tree, including capillaries, while the aorta is relatively unaffected [ 9 , 10 , 11 , 12 , 13 , 96 , 97 , 98 ]. The morphology of arterial calcification in PXE is mixed.…”

Section: Therapeutic Approachesmentioning

confidence: 99%

Therapy of Pseudoxanthoma Elasticum: Current Knowledge and Future Perspectives

et al. 2021

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Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease with an estimated prevalence of between 1 per 25,000 and 56,000. Its main hallmarks are characteristic skin lesions, development of choroidal neovascularization, and early-onset arterial calcification accompanied by a severe reduction in quality-of-life. Underlying the pathology are recessively transmitted pathogenic variants of the ABCC6 gene, which results in a deficiency of ABCC6 protein. This results in reduced levels of peripheral pyrophosphate, a strong inhibitor of peripheral calcification, but also dysregulation of blood lipids. Although various treatment options have emerged during the last 20 years, many are either already outdated or not yet ready to be applied generally. Clinical physicians often are left stranded while patients suffer from the consequences of outdated therapies, or feel unrecognized by their attending doctors who may feel uncertain about using new therapeutic approaches or not even know about them. In this review, we summarize the broad spectrum of treatment options for PXE, focusing on currently available clinical options, the latest research and development, and future perspectives.

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