Pseudoxanthoma elasticum (PXE)
People affected by Pseudoxanthoma elasticum (PXE), otherwise called Grönblad–Strandberg syndrome, usually develop the genetic disease in childhood.
Studies show that a ratio of 1:25,000 people in the American population are identified as having Pseudoxanthoma elasticum (PXE). Although it affects all nationalities, the prevalence is higher among Afrikaaner inhabitants of Southern Africa.
What is Pseudoxanthoma elasticum (PXE)?
Pseudoxanthoma elasticum (PXE) occurs when the elastin fibres of connective body tissue in the midlaminar layer of the dermis start to break down and systematically degenerate certain body parts as a result of an autosomal genetic mutation. The major components of connective tissue are collagen and elastin, which are present in the retinae of the eyes, the skin, and the blood vessels.
Angioid streaks form in the retinae that can result in blindness. Raised areas of yellow-white patches or papular lesions form on the flexing part of the neck, armpits, elbows, knees, and groin. The skin becomes soft and floppy like a plucked chicken and can vary depending on severity. If the blood vessels are affected, it can lead to gastrointestinal bleeding, heart attacks and strokes.
Types of Pseudoxanthoma elasticum (PXE)
The types of pseudoxanthoma elasticum (PXE) are therefore classified according to the part of the body affected, such as the retinae of the eyes, the flexures of the skin, and calcification within the blood stream (atherosclerosis). The function of the heart, bowels and uterus can be impacted if the degeneration of elastin weakens small blood vessels and causes mitral valve prolapse. When circulation in the legs is affected, pain is felt during exercise particularly.
Causes of Pseudoxanthoma elasticum (PXE)
Pseudoxanthoma elasticum (PXE) primarily has a genetic basis where an autosomal recessive mutation in the ABCC6 gene occurs on the short arm of chromosome 16. Other research suggests that PXE is a metabolic disease caused by the inability of vitamin K metabolites to reach peripheral tissues.
Diagnosing Pseudoxanthoma elasticum (PXE)
Pseudoxanthoma elasticum (PXE) is primarily diagnosed through identification of the skin abnormality and the angioid streaks present in the eye’s retina. Family history is also discussed to identify a genetic basis. Tests may also be conducted to check levels of vitamin K function to see how the metabolism may be affected.
Treatments for Pseudoxanthoma elasticum (PXE)
Treating Pseudoxanthoma elasticum (PXE) depends on the severity of the condition and also the part of the body affected and any other health conditions present. The following treatments are common:
- Managing through diet, such as reducing calcium consumption because PXE causes mineralization and excess calcium in the body
- Monitoring organ function and degeneration of elastin tissue
- Avoiding non-steroid anti-inflammatory drugs, such as aspirin and ibuprofen
- Use of medications such as Avastin and Lucentis (antiangiogenic drugs)
- Injections to the affected skin sites with medications such as triamcinolone
- Laser photocoagulation and photodynamic therapy to eye retina treatment
- Plastic surgery for affected skin areas
There is no cure for Pseudoxanthoma elasticum (PXE), but the condition can be managed and treated for better organ function and overall well-being.