Initially, a newly diagnosed individual should have assessments by a primary care physician, ophthalmologist, dermatologist, and cardiologist. People affected by PXE must find healthcare professionals who are willing to learn about PXE since there are few well-informed professionals. GeneReviews has a thorough clinical description for the healthcare provider and is a good piece of information to print and bring to the healthcare provider. PXE International has bulletins available online for the ophthalmologist, dermatologist, primary care physician, pediatrician, obstetrician, and dentist.
Regular physical exams by a primary care physician are recommended. A detailed family history should be taken with regard to onset, signs that may be related to PXE and the rest of the family´s medical history. The affected individual´s blood pressure and cholesterol and triglycerides should be monitored and abnormal levels aggressively treated. Peripheral pulses should be monitored. A dermatologist will most likely be the physician to make the definitive diagnosis and can also offer advice on reconstructive surgery if that is of interest to the patient. A cardiologist should perform a baseline EKG, cardiac stress test, echocardiogram, and Doppler evaluation of peripheral arteries. An ophthalmologist will dilate the eyes to look for peau d'orange and angioid streaks. If angioid streaks are found, it is wise to consult a retinal specialist.