Short answer · Medically reviewed summary · Last updated: 2023-07-13
Pseudoxanthoma Elasticum (PXE) is a rare genetic disorder that affects the connective tissues in the body, particularly the skin, eyes, and blood vessels. It is characterized by the abnormal mineralization and fragmentation of elastic fibers, leading to various symptoms and complications. The prevalence of PXE is estimated to be around 1 in 25,000 to 100,000 individuals worldwide.
What is the prevalence of Pseudoxanthoma Elasticum (PXE)?
Prevalence of Pseudoxanthoma Elasticum (PXE): how many people are affected worldwide, differences by sex and region, with sources.
Pseudoxanthoma Elasticum (PXE) is a rare genetic disorder that affects the connective tissues in the body, particularly the skin, eyes, and blood vessels. It is characterized by the abnormal mineralization and fragmentation of elastic fibers, leading to various symptoms and complications.
The prevalence of PXE is estimated to be around 1 in 25,000 to 100,000 individuals worldwide. However, due to underdiagnosis and misdiagnosis, the actual prevalence may be higher than reported. PXE can affect people of all ethnicities and both genders equally.
While PXE is considered a rare condition, it is important to note that the prevalence can vary in different populations. Some studies have suggested a higher prevalence in certain regions or specific ethnic groups. For example, in some French-Canadian populations, the prevalence has been reported to be as high as 1 in 7,500 individuals.
Early diagnosis and management of PXE are crucial to prevent or minimize complications. Individuals with suspected PXE should consult with healthcare professionals who specialize in genetic disorders or dermatology for proper evaluation, diagnosis, and appropriate treatment options.
