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 |  | Macular Degeneration Treatment: $50+ Per Dose |  | Neck Lift: $4,000-$8,000 |  | Facelift: $6,000-$15,000 |
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Pseudoxanthoma Elasticum[1] , or PXE, is a rare genetic disorder that causes elastic tissue in parts of the body to become mineralized, which leads to a variety of changes primarily in the skin, eyes, cardiovascular system and gastrointestinal system. Some of those changes may cause little impact while others, such as calcification of arteries or loss of vision, can be severe. Others, like sagging skin, or skin lesions can cause cosmetic concerns.
Typical costs: | - According to the advocacy group PXE International[2] , a newly diagnosed patient should have regular physical exams by a primary care physician, as well as routine assessments by an ophthalmologist, dermatologist, and cardiologist. For patients covered by health insurance, out-of-pocket costs will typically consist of a primary doctor or specialist copay of $5 -$30 or more, or coinsurance of 10%-50% or more, per visit. For patients without health insurance, an office visit typically costs $50-$200 or more.
- According to the book Gene Reviews[3] , current treatments for macular degeneration[4] appear to be effective for PXE-related vision problems, though there are differences between the conditions. The macular degeneration drug Lucentis (ranibizumab) costs $2,000 a dose, but a recent clinical trial[5] found the drug Avastin, which costs $50 a dose, to be just as effective.
- Some patients may need medical intervention for gastrointestinal bleeding, which may begin with a upper gastrointestinal endoscopy, a flexible tube with an attached camera and light that's used to examine the inside of the upper digestive tract to further investigate problems. The procedure typically costs between about $1,500 -$10,000 or more for patients not covered by health insurance, depending on the provider, geographic location, whether sedation is used or not and whether the procedure is done in an imaging center or in a hospital. For patients covered by health insurance, out-of-pocket costs typically include an office visit copay and coinsurance of 10%-50%.
- According to PXE International[6] , some patients may consider cosmetic surgery, such as a facelift or neck lift, to correct the wrinkles, folds and looseness of the skin that can be caused by PXE. Costs for a facelift usually cost $6,000-$15,000, while a neck lift typically costs between $4,000 and $8,000, depending on the patient and what needs to be done. These may be covered by health insurers as reconstructive procedures.
Related articles: Annual Physical, Genetic Consultation, Biopsy, Health Insurance
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What should be included: | - According to Gene Reviews[7] , methods used by doctors to diagnose PXE include skin biopsy[8] , looking for tell-tale changes during an examination of the retina, or genetic testing.
- Care typically involves a multidisciplinary team and will depend on how the disorder manifests for a specific individual.
Additional costs: | - Because PXE is an inherited disorder, experts recommend that patients and their families receive genetic counseling.
Discounts: | - Many hospitals offer discounts of 30% of more to uninsured or cash-paying patients. At St. Joseph Hospital[9] in Orange, CA, for example, patients without health insurance may qualify for a 45% discount off billed charges. They'll also be offered an additional 10% discount if payment is made within 10 days of receiving a bill.
Shopping for pseudoxanthoma elasticum treatment: | - The National Association for Pseudoxanthoma Elasticum offers tips to help PXE patients find the right doctors[10] .
- PXE International offers helpful links[11] on a variety of patient topics.
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Material on this page is for informational purposes only and should not be construed as medical advice. Always consult your physician or pharmacist regarding medications or medical procedures.
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External Resources: | - www.pxe.org/what-pxe
- www.pxe.org/what-pxe#What_are_effects_
- www.ncbi.nlm.nih.gov/books/NBK1113/
- my.clevelandclinic.org/disorders/macular_degeneration/hic_macular_degeneration.aspx
- www.nih.gov/news/health/apr2012/nei-30a.htm
- www.pxe.org/plastic-surgery-considered
- www.ncbi.nlm.nih.gov/books/NBK1113/
- www.webmd.com/cancer/skin-biopsy
- www.sjo.org/For-Patients/Your-Hospital-Bill/Self-Pay-Discount-Program.aspx
- www.pxenape.org/articles/How-to-Find-a-Doctor.htm
- www.pxe.org/links
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