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 accumulation of calcium and other minerals in the elastic fibers, leading to their fragmentation and dysfunction. While there is currently no cure for PXE, several treatments can help manage its symptoms and slow down disease progression.
Lifestyle modifications play a crucial role in managing PXE. Protecting the skin from sun exposure is essential, as ultraviolet radiation can worsen the symptoms. Wearing protective clothing, using sunscreen, and avoiding tanning beds are recommended. Regular exercise, a balanced diet, and maintaining a healthy weight can also contribute to overall well-being.
There are no specific medications approved for the treatment of PXE. However, certain medications can be prescribed to manage associated symptoms:
In some cases, surgical interventions may be necessary to address specific complications of PXE:
Various supportive therapies can help individuals with PXE manage their symptoms and improve their quality of life:
It is important for individuals with PXE to work closely with a healthcare team, including dermatologists, ophthalmologists, cardiologists, and genetic counselors. Regular monitoring and early intervention can help manage complications and improve outcomes.