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How I found this topic:

I started off reseraching: "What diseases are least known to people today? What diseases are out there that we don't really know exist?" That is when I came across a list of different diseases that most people have never heard of. I found that there are countless amounts of dieases that most people don't know. Among that countless amount, I found this one. The more I began to research, the more interested I became.

(continued)

Cause?

This mutation results from an autosomal recessive process, meaning that both copies of the gene, in each cell, have mutations.

Most often, both parents carry the mutated gene, but do not show symptoms/signs.

Some complications with this disorder:

- Various heart disorders such as stroke

- Gastrointestinal and brain hemorrhage

- Fatal coronary occlusion

- Severe retinal hemorrhage

- Central vision loss

- Lung diseases

- Claudication

- Hypertension

- Angina

What are some ways to detect this disorder?

Blood tests, imaging, urinalysis, echocardiogram, endoscopy, coronary angiography, x-rays, an MRI and a few others. If you think you may have Pseudoxanthoma Elasticum, you should see a doctor immediately.

Pseudoxanthoma Elasticum

What is it?

Pseudoxanthoma Elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers.

In PXE, mineralization can effect elastic fibers in the skin, eyes, blood vessels, and less frequently in other areas such as the digestive tract

Cause?

Cause

PXE is caused by mutations in the ABCC6 gene, on chromosome 16p13.1. This gene is responsible for making the protein called MRP6. This protein is found primarily in cells of the liver and kidneys, with small amounts in other tissues including the skin, stomach, blood vessels and eyes. Mutations in this gene cause a shortage or absence of the MRP6 protein. It is unclear, however, how exactly the absence of this protein causes PXE.

Works Cited:

A presentation by Kayla Chartrand

Bercovitch, Lionel G. "What is PXE?" PXE International . N.p., 9 Aug. 2010. Web. 15 Jan. 2017. <https://www.pxe.org/about-pseudoxanthoma-elasticum/what-is-pseudoxanthoma-elasticum>.

Lebwohl, Mark. "Pseudoxanthoma Elasticum (PXE)." National Organizations for Rare Disorders. N.p., n.d. Web. 15 Jan. 2017. <https://rarediseases.org/rare-diseases/pseudoxanthoma-elasticum-pxe/>.

"Pseudoxanthoma Elasticum." Patient: trusted medical information and support. N.p., n.d. Web. 17 Jan. 2017. <http://patient.info/doctor/pseudoxanthoma-elasticum-pro>.

"Pseudoxanthoma elasticum." U.S. National Library of Medicine. U.S. Department of Health and Human Services, 17 Jan. 2017. Web. 19 Jan. 2017. <https://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum>.

"RARE List." Global Genes: Allies in Rare Diseases. Global Genes, 2015. Web. 17 Jan. 2017. <https://globalgenes.org/rarelist/?gclid=COzH0ZbM0dECFUi5wAodNn4HMQ>.

Shiel, William C., Jr. "Pseudoxanthoma Elasticum (PXE)." MedicineNet.com. Ed. Norman Levine. N.p., 22 Mar. 2016. Web. 17 Jan. 2017. <http://www.medicinenet.com/pseudoxanthoma_elasticum/article.htm>.

Can you prevent getting this disease?

There is no known way to prevent this genetic disease. Couples with a family history of PXE should consider gene reviews and genetic testing to find out if they carry the abnormal gene.

How to treat/manage this disorder:

There is no cure for PXE. Plastic surgery can be used to correct and manage sagging skin. Patients with PXE should avoid smoking and contact sports. All patients with PXE should be monitored on a regular basis by an ophthalmologist. Diet and exercise is also recommended to lower the heightened risk of heart conditions that people with PXE have.

Did You Know?

PXE affects approximately 1 in 50,000 people worldwide.

Also, for reasons that are unknown, this disorder is diagnosed twice as frequently in females as in males.

Where can you find more information?

You can find more information from these websites:

Medline Plus

https://medlineplus.gov/connectivetissuedisorders.html

GARD: Genetic And Rare Disease info center

https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum

You can also look into the National Organization for Rare Disorders by going to the link below:

http://rarediseases.org/rare-diseases/pseudoxanthoma-elasticum-pxe/

What current research is there?

Currently, clinical trials organized by the National Eye Institute(National Institutes of Health), are ongoing to compare different anti-angiogenic compounds, with significant price differences, for their clinical ability to produce a desired or intended result, while new anti-angiogenic agents are being developed

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