What is PXE? And how does it impact patients?
PXE stands for Pseudo Xanthoma Elasticum. It is a hereditary disease in which calcifications occur in various connective tissues due to a defect in the ABCC6 gene. Due to this gene defect, a certain substance cannot be properly transported from the liver to the bloodstream. As a result, elastic tissues in the skin, eyes and blood vessels are susceptible to the accelerated calcifications that occur. The severity differs per patient. Because the condition is rare, PXE often goes unrecognized.
English subtitles?
This dutch video by the KRO/NCRV explains PXE elaborately. For English please activate the caption in the Youtube settings.
Signs & Symptoms.
Here you can find detailed information about the signs and symptoms of Pseudoxanthoma Elasticum, a rare genetic disorder affecting the skin, eyes, and cardiovascular system. Learn about the common symptoms of PXE and how they may progress over time.
Pseudoxanthoma Elasticum. Signs & Symptoms.
PXE causes yellowish thickenings in the flexible areas of the skin, such as the neck, armpit, popliteal, groin and elbow. It looks like a rash as if the neck has not been washed. The skin in these places also slackens. The dermatologist can take a biopsy and have it tested for PXE.
With age, blood vessels calcify. This is accelerated with PXE. The patient may experience pain when walking due to calcification of the veins in the legs. When one stops walking for a while, these complaints disappear; the so-called “shop window legs”. By walking daily, the patient can reduce the complaints; the so-called “gait training”.
A PXE patient also has an increased risk of TIAs and cerebral infarctions due to the calcifications in the blood vessels.
PXE also leads to calcification in the eyes. This can cause cracks under the retina, allowing new blood vessels to grow. Also, the retina at the location of the yellow spot (the location of the central vision) often becomes thin. Both of these often lead to significant vision loss. PXE patients are therefore under the supervision of an ophthalmologist. He can try to prevent visual impairment by administering injections in the eye.
The walls of the blood vessels in the stomach also harden, which increases the risk of stomach bleeding.
The symptoms mentioned earlier do not manifest themselves in most people until around the age of 40. The complaints mentioned are also different for every patient. Some patients have few skin lesions, and others have little or no vision loss. Many patients experience no stomach discomfort, and others have little or no vascular problems. It is also impossible to predict how the disease process will progress.
Is PXE hereditary?
An inherited defect in the ABCC6 gene causes PXE. Dozens of mutations in this gene are now known that can cause the disease. PXE is a recessive disease, meaning there must be two errors in the genetic material to get the disease. Therefore, children of PXE patients are usually only carriers and can only have the disease if their father or mother, who does not have PXE, is also a carrier. The chance of this is 25%.
PXE & Pregnancy.
Women with PXE can generally have normal pregnancies. There are also no known complications or effects on the fetus.
If a woman with PXE wants to become pregnant, she must inform the doctors treating her. When giving birth, there is a risk of bleeding in the eye during pushing, but with good guidance, this does not have to be a problem.
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