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Ehlers-Danlos syndrome: Living with a genetic rarity

Ehlers-DanlosImagine not being able to pick up a pencil without your fingers hurting.

Sending a letter, doing a crossword puzzle, these are just a few of the simple tasks that trigger pain in your joints on a regular basis.

This can be a reality people with Ehlers-Danlos syndrome face every day. Except that this pain often is felt from head to toe and can be debilitating. What’s more, Ehlers-Danlos also causes especially thin skin that can bruise and tear easily, leading to wounds that have trouble healing.

Those with Ehlers-Danlos have an inherited, genetic defect in their connective tissue, making their skin fragile and their joints unusually flexible. According to the Ehlers-Danlos National Foundation (EDNF), an international nonprofit dedicated to supporting people living with the condition, between 1 in 2,500 and 1 in 5,000 individuals are diagnosed with some form of this syndrome.

There are six types of Ehlers-Danlos (also called EDS), with the Vascular Type being the most serious due to the possibility of arterial or organ rupture. Symptoms common to all types of Ehlers-Danlos can vary in severity, but most often include (as described by the Mayo Clinic):

 

  • Overly flexible joints: Because the connective tissue that holds joints together is looser, joints can move far past the normal range of motion. Small joints are affected more than large joints. Unstable joints are problematic as they can result in more sprains, dislocations or hyperextensions.
  • Stretchy skin: Weakened connective tissue allows the skin to stretch much more than usual. The skin might also feel exceptionally soft and velvety.
  • Fragile skin: Damaged skin often doesn’t heal well. For example, the stitches used to close a wound often will tear out and leave a gaping scar. These scars may look thin and crinkly.
  • Fatty lumps at pressure points: These small, harmless growths can occur around the knees or elbows and may show up on X-rays.

 

Ehlers-Danlos can have a huge impact on the lives of those afflicted with it. The majority of those with the condition suffer from chronic joint pain caused by joint hypermobility. Individual stories from the Ehlers-Danlos community also tell of pain in the back, hands, abdomen and many places in the body at once. Even simple tasks, such as holding a pencil, can hurt.

Patients with conditions like Ehlers-Danlos that require chronic pain management are good candidates for pharmacogenetic testing. The risks and benefits of many pain medications can vary widely from person to person, due in part to genetic differences in how individuals process medications.

Pharmacogenetic testing can help physicians know which pain medications will be the safest and most effective with little to no trial-and-error prescribing, thus vastly improving patient experiences with these medications.

While there is no cure for EDS, there is hope. The EDNF, for example, is a treasure trove of resources for those with the condition, offering access to patient support groups and an annual conference designed to bring the community together. The EDNF has also spent more than $140,000 for research related to the early detection, diagnosis and treatment of those with Ehlers-Danlos.

If you or a loved one has Ehlers-Danlos, you are not alone. Check out the EDNF website and Facebook page to learn more.

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