What Kind of Medical Care Will Be Needed?

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 will be few well-informed professionals. Gene Reviews has a thorough clinical description for the healthcare provider and would be a good piece of information to print and bring to the healthcare provider (http://www.geneclinics.org/profiles/pxe). PXE International has bulletins available online for the ophthalmologist, dermatologist, primary care physician, pediatrician, obstetrician and dentist (www.pxe.org).

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 abnormalities aggressively managed. Peripheral pulses should be monitored as well. 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.