July 2017 – The Disease Detective

Hi everyone! Today, I will be posting about a disease that affects someone close to me and that I feel needs much more awareness, both in the medical community and in the general public.

Pseudoxanthoma Elasticum, commonly referred to as PXE, is a genetic connective tissue disease for which there is no cure. PXE is a very rare disease that is estimated to only affect 1 in every 25,000-100,000 individuals. women are twice as likely as men to be diagnosed, though the cause for this observation is unknown at this time. PXE is caused by a mutation in the gene that codes for the membrane transport protein ABCC6, leading to mineralization of elastic tissue in the skin, retina, and arteries. This disease is known as an autosomal recessive disease, meaning that it can be inherited, though it is unlikely that an affected individual’s children can develop the disease unless their spouse is also a carrier of the defective gene.

PXE is commonly diagnosed when any of the following signs are detected (see pictures below):

Specific skin lesions around the neck – the skin looks like cobblestones or a plucked chicken
Peau d’orange and/or angioid streaks on the retina, and abnormal calcification in the arteries.

While there is no treatment for PXE, physicians in many specialties can help patients maintain a healthy life by watching for the signs above and taking steps to treat any conditions that may arise from them. Some common ways that PXE patients can remain healthy include:

Regular cardiology examinations – your cardiologist can check to make sure your entire cardiovascular system is functioning properly, especially your heart, and can provide you with information to maintain proper cardiac health, including diet recommendations and exercise advise.
Regular eye examinations – your optometrist or ophthalmologist can observe the overall health of your eye and detect some of the earliest signs of PXE. Since PXE can lead to an increased risk of retinal bleeding and a loss of central vision, your eye doctor can continuously monitor your eye health to prevent vision loss and the development of a retinal bleed.
Regular examinations with your general practitioner and other specialists – your general practitioner will ensure you remain healthy overall and may refer you to other specialists as needed. Apart from cardiologists and eye doctors, another specialty consulted for PXE patients may include gastroenterology, as PXE can increase your risk of intestinal bleeding.

Unfortunately, since PXE is so rare, very few physicians know what signs to watch for in their patients. While there is no cure, early detection can allow patients to follow up with different specialties to prevent vision loss, cardiovascular complications, gastrointestinal complications, and more. As organizations, such as PXE International, continue to bring awareness to this disease, more and more research will be conducted to allow us to have a better understanding of what underlying processes are occurring and how we can better treat patients.

The classic PXE skin lesion on the back of the neck. (pxe.org)

Retinal image, showing the angioid streaks that are indicative of PXE (maculacenter.com)

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