Therapy of Pseudoxanthoma Elasticum: Current Knowledge and Future Perspectives

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 reduct...

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Bibliographic Details
Published in:Biomedicines 2021-12, Vol.9 (12), p.1895
Main Authors: Stumpf, Max Jonathan, Schahab, Nadjib, Nickenig, Georg, Skowasch, Dirk, Schaefer, Christian Alexander
Format: Article
Language:English
Subjects:
Age
Arteriosclerosis
Atherosclerosis
Calcification
Calcification (ectopic)
choroidal neovascularization
Collagen
Cosmetic surgery
Lasers
Lipids
Macular degeneration
Membranes
Metabolic disorders
Protein deficiency
pseudoxanthoma elasticum
PXE
Retina
Review
skin
Skin diseases
Skin lesions
therapy
Vascular endothelial growth factor
Vascularization
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Summary: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 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 Although various treatment options have emerged during the last 20 years, many are either already outdated or not yet ready to be applied generally. Clinical physicians often are left stranded while patients suffer from the consequences of outdated therapies, or feel unrecognized by their attending doctors who may feel uncertain about using new therapeutic approaches or not even know about them.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.
ISSN:2227-9059
2227-9059
DOI:10.3390/biomedicines9121895