Abstract
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 Although various treatment options have emerged during the last 20 years, many are either already outdated or not yet ready to be applied generally. Clinical physicians often are left stranded while patients suffer from the consequences of outdated therapies, or feel unrecognized by their attending doctors who may feel uncertain about using new therapeutic approaches or not even know about them.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.
Highlights
Pseudoxanthoma elasticum (PXE, OMIM 264800) is a rare, genetic disease with autosomal recessive inheritance
Since a prospective study with structured follow-up has never been conducted for any kind of treatment of skin lesions in PXE, these therapies should be considered with caution and only used after carefully weighing the operative risks and individual suffering
retinal pigment epithelium (RPE) is a monolayer of cells directly adjacent to the photoreceptors, its function is to reduce the scattering of light and mediate metabolism and nutrient exchange for the cones and rods via diffusion through the Bruch’s membrane (BM)
Summary
Pseudoxanthoma elasticum (PXE, OMIM 264800) is a rare, genetic disease with autosomal recessive inheritance. Its specific substrate is still unknown, ABCC6 is involved in the homoeostasis of serum pyrophosphate (PPi), a main inhibitor of ectopic calcification. Some previous attempts at reviewing the current knowledge of PXE have been made. The main intention of this review is to focus on current treatment possibilities regarding the skin changes, choroidal neovascularization, and atherosclerosis. As new therapeutic advances, such as pyrophosphate substitution or bisphosphonate administration, will probably become an integral part of PXE treatment, they will be addressed in this review. As this review intends to comprehensively overview possible therapeutic options that clinical physicians are frequently asked about, other therapeutic approaches with—from today’s point view—little or no chance of ever being used as a therapeutic agent for PXE, will be summarized
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