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General FAQ

 


 Frequently Asked Questions - General


  1. What is PXE?
  2. What are the general symptoms of PXE?
  3. What are the best treatments for PXE?
  4. Is an annual exam sufficient monitoring for an otherwise healthy individual with PXE?
  5. Can you help me find a doctor in my area who is knowledgable about PXE? 
  6. How can I educate my doctor about PXE? 

1. What is PXE?


Pseudoxanthoma elasticum, PXE, is an inherited disorder that affects selected connective tissue in some parts of the body. Some elastic tissue in the body becomes mineralized, that is, calcium and other minerals are deposited in some tissue. This can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.  Read more about PXE signs, effects and medical care in the PXE General Bulletin[March 2006]

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2. What are the general symptoms of PXE?


Peau d'orange, angioid streaks, retinal hemorrhage and wrinkly skin are the general symptoms of PXE. Any other symptoms should be examined and treated just as it would in the general population. Remember that people with PXE get all the same things other people get, including, but not limited to: flashes and floaters, arthritis, cancer, back pain, joint pain, and so on. If you are concerned about a symptom, bring it to the attention of your physician or the physician's nurse rather than assuming it is caused by PXE and perhaps missing an important problem that is not related to PXE.  [January 2008]

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3. What are the best treatments for PXE?


Symptoms of and treatments for PXE are discussed in detail in the specific medical bulletins published by PXE International for affected individuals and their physicians and are available on this site. Research in PXE is ongoing and new treatments are being tested. PXE International provides important news about treatments and the latest interventions through our Announcement email list and our newsletter, the MemberGram[March 2006]

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4. Is an annual exam sufficient monitoring for an otherwise healthy individual with PXE?


Annual examination of a stable, asymptomatic individual with PXE is sufficient for primary care. Individuals with PXE should also have regular visits with an ophthalmologist/retina specialist. It is recommended that people with PXE be monitored for risk factors for atherosclerosis and that they use eye protection such as goggles against eye injury during contact or racquet sports. They should also avoid aspirin and NSAIDs (nonsteroidal anti-inflammatory drugs) to minimize the risk of gastrointestinal bleeding.  [March 2006]

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5. Can you help me find a doctor in my area who is knowledgable about PXE?


Unfortunately, we cannot recommend a doctor who is familiar with PXE, unless you are looking for an ophthalmologist or dermatologist.  Since there are more than 6000 rare diseases, doctors cannot be familiar with all of these diseases.  Furthermore, you might find a general practitioner or cardiologist who has seen a PXE patient or two, but every person is different and you would not want a doctor to base your case on the few other cases he or she has seen.

Fortunately the effects of PXE on the various organ systems of the body are similar to those produced by much more common conditions - so you need to find a doctor who is caring and listens and takes the time to become educated about PXE.  He or she can read our medical bulletins, and learn how to care for you.  He or she can also consult us (we have gathered data on over 600 affected individuals) if necessary.

If you need to see another specialist, we recommend you see the best in the field (ask around for this), then bring our materials to that person. [July 2009]

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6. How can I educate my doctor about PXE?


You need to find a doctor who is caring and listens and takes the time to become educated about PXE.  He or she can read our medical bulletins or visit our website.  Your doctor can also consult us if necessary.

Here are three resources to print and take to each one of your doctors:

PXE General Bulletin
: PXE signs, symptoms, effects and medical care
PXE and the Primary Care Physician: A bulletin to educate doctors about how people with PXE should be followed
GeneClinics Review of PXE: A thorough clinical description of PXE for the health care provider. [March 2009]

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Disclaimer


These are replies to general and specific questions which have been submitted to us in the past. Our responses may not apply to any particular individual´s situation and are not a substitute for medical advice given by a physician who is familiar with the individual´s case and who has examined the patient. In addition, the responses are updated on a periodic basis but may not be current.

 

Last modified: 03/22/2014