PXE is a progressive connective tissue disorder characterized by the triad of skin (yellowish papular lesions), ocular (mainly angiod steaks) and cardiovascular involvement (mainly accelerated atherosclerosis). This autosomal recessive disorder shows enhanced mineralisation of elastic fibers due to mutations in ABCC6, encoding a transporter for which the substrate is still debated.
- Specific challenges associated with the recognition of the condition
Detection of the triad of skin (papular lesions in flexural areas), ocular (angioid streaks with a propensity for subretinal neovascularization and hemorrhage), and cardiovascular (occlusive peripheral vessel disease) symptoms that can vary significantly in severity. Many related phenotypes and phenocopies (Beta-thalassemia).
- Specific challenges associated with the diagnosis
Detailed clinical phenotyping – genetic testing.
- Specific challenges associated with the treatment
Long-term follow-up necessary for ophthalmological and cardiovascular complications. Control of cardiovascular risk factors, need for specialized retinal imaging techniques (blue light autofluorescence, near-infrared confocal reflectance imaging, high resolution optical coherence tomography, fluorescein and indocyanine green (ICG) angiography).
- Specific challenges associated with care of these patients over their lifespan- Quality of life issues – Gaps accross the care
Risk for severe ophthalmological complications including retinal hemorrhages and vision loss. Risk for cardiovascular complications of accelerated atherosclerosis (coronay artery disease, peripheral artery disease, stroke). Some patients may worry about the aesthetic aspects of the disease.
Prevalence : 40 000 in Europe (population dependent)