What is the management approach for Pseudoxanthoma elasticum (PXE)?

From the Guidelines

The management of Pseudoxanthoma elasticum (PXE) should focus on a multidisciplinary approach to prevent complications and treat symptoms, as there is no cure for this genetic disorder. The approach to managing PXE involves regular screening and monitoring to prevent and manage complications. Key aspects of management include:

• Regular comprehensive eye examinations every 6-12 months to monitor for retinal complications, particularly choroidal neovascularization, which may require anti-VEGF injections such as bevacizumab or ranibizumab if detected.
• Cardiovascular evaluation with regular blood pressure monitoring, lipid panels, and periodic cardiac assessments to manage the increased risk of atherosclerosis and vascular calcification, similar to the approach recommended for other vascular diseases, such as the management of vEDS which requires lifestyle modification, identification of a care team, and annual surveillance of the vascular tree 1.
• Patients should take daily low-dose aspirin (81-100 mg) for prevention of thrombotic events, unless contraindicated.
• Lifestyle modifications are crucial, including avoiding trauma to affected skin, smoking cessation, regular exercise, maintaining healthy weight, and limiting dietary calcium.
• Genetic counseling should be offered to patients and families.
• For skin manifestations, cosmetic treatments may be considered, though they don't address the underlying condition.
• Gastrointestinal bleeding, if it occurs, requires prompt medical attention. This approach is necessary because PXE affects multiple organ systems through abnormal mineralization and elastic fiber fragmentation caused by mutations in the ABCC6 gene, which disrupts normal calcium and phosphate metabolism. While the provided guideline evidence primarily discusses the management of vEDS 1, the principles of multidisciplinary care, lifestyle modification, and regular surveillance can be applied to the management of PXE, emphasizing the importance of individualized care plans and regular monitoring to improve prognosis.

From the Research

Management Approach for Pseudoxanthoma Elasticum (PXE)

The management approach for Pseudoxanthoma Elasticum (PXE) involves a combination of therapeutic strategies to treat the ocular, cardiovascular, and skin manifestations of the disease. Some of the key management approaches include:

• Ocular manifestations:
  • Laser photocoagulation 2
  • Transpupillary thermotherapy 2
  • Photodynamic therapy 2, 3
  • Macular translocation surgery 2
  • Anti-vascular endothelial growth factor treatment 2, 3, 4
• Cardiovascular manifestations:
  • Lifestyle modifications to limit complications, such as maintaining a normal lipid profile and avoiding aspirin and nonsteroidal anti-inflammatory agents 5
  • Vascular surgery for severe cardiovascular manifestations 4
• Skin manifestations:
  • No specific treatment, but skin biopsy can demonstrate calcified elastic fibers, even in mildly affected areas 5

Lifestyle Modifications

Lifestyle modifications play a crucial role in managing PXE, including:

• Limiting contact sports or other activities that may facilitate eye trauma 5
• Maintaining a normal lipid profile 5
• Avoiding aspirin and nonsteroidal anti-inflammatory agents 5
• Limiting dietary calcium intake 5

Future Treatment Options

Future treatment options for PXE may include:

• Gene therapy/editing 4
• Pharmacologic chaperone therapy 4