Laboratory evaluation of calcium, phosphorus, and lipids should be obtained. Ophthalmologic consultation should include recording of visual acuity, dilated indirect ophthalmoscopic exam, Amsler grid monitoring of central visual fields, and fluorescein angiogram if signs or symptoms warrant. As are most inherited diseases, PXE is incurable. Management should focus on education of the patient, genetic counseling, monitoring and treatment of complications, and dietary and lifestyle modifications to delay or possibly prevent complications. This may involve a team approach including dermatologist, primary care physician, ophthalmologist, cardiologist, vascular surgeon, plastic surgeon, genetic counselor, and nutritionist.
Support groups are of tremendous benefit in helping patients to cope with the disease.
Genetic counseling should be offered early on, as the genetic transmissibility of the disease may be a source of anxiety. Regular ophthalmologic examination by a physician with expertise in retinal disease is essential, and patients should learn to use the Amsler grid to monitor for central visual disturbances. Regular physical examinations with specific attention to the gastrointestinal, and cardiovascular systems is essential. Lipid studies should be monitored periodically. Wound healing seems to be uncomplicated in PXE, although cosmetic acceptability is less predictable.