Understanding the Rare Condition of Ehlers-Danlos Syndrome

Have you ever imagined dislocating your arm or jaw? Perhaps not, but you likely know someone who has experienced such an ordeal. Now, try to envision a scenario where various joints in your body including arms, legs, feet, ribs, dislocate almost routinely, occurring every hour or day. This is the harsh reality for those afflicted by the rare condition known as Ehlers-Danlos Syndrome (EDS).

Ehlers-Danlos Syndrome is a group of genetic disorders that affect the body's connective tissues, found in the skin, tendons, ligaments, internal organs, and bones. While there are thirteen recognized types of EDS, they share common symptoms such as excessively flexible joints, fragile and stretchy skin that's prone to injuries.

Among the various forms, hypermobile EDS stands out as the most prevalent. Others include Classical EDS, Vascular EDS, Cardiac-valvular EDS, Kyphoscoliotic EDS, Arthrochalasia EDS, Dermatosparaxis EDS, Brittle Cornea Syndrome, Spondylodysplastic EDS, Musculocontractural EDS, Myopathic EDS, and Periodontal EDS.^,

With hypermobile EDS, joints are loose and easily dislocated, and patients will experience joint pain, extreme tiredness, fragile skin, dizziness, also having issues with digestion, and organs, and difficulty controlling the bladder. Hypermobility occur in a spectrum with EDS on one end and hypermobility on another. Affected people can have stretchy and bruisy skin over the head, knees, and elbow, and slow healing wounds.

Vascular EDS is among the most critical variations on the spectrum. It affects around 1 in every 50 to 200 thousand individuals, impacting blood vessels and internal organs. This variation can lead to organ or blood vessel ruptures, posing life-threatening situations. Symptoms include easily bruised and thin skin, visible fragile blood vessels, womb tearing in women, lung collapses, hypermobility in toes and fingers, distinctive facial features, and more. ^,

This syndrome is genetic, passed on from parent to children, with some being dorminant, with a 50% chance of developing the syndrome and others being recessive with a 25% chance of the developing EDS. Diagnoses for this syndrome would include genetic blood test, family history, physical examination, and medical history. The diagnosis can take years to be concluded and people can be misdiagnosed with fibromyalgia, irritable bowel syndrome, and chronic fatigue syndrome, as it is very rare.

It's crucial to emphasize that there's no specific treatment or cure for EDS. Individuals affected by the syndrome learn to manage and adapt to their condition with the assistance of physiotherapy, pain management strategies, joint strengthening exercises, injury prevention methods, and safe living practices. Activities like contact sports and heavy lifting might need to be avoided.

Cases of this condition is very rare but there have been cases such as that of Kaity D Vale who started having dislocations at 13 years. She went through several surgeries that were not necessary as a result of little knowledge about the condition. She had 1 rib, 3 toe knuckles, and a spinal surgery, and still would perform more surgeries but she was able to get a diagnosis for hypermobile EDS.

Another case is Garry Turner who got the guiness world record for the world's most stretchy skin. He has been able to stretch his skin as a result of Ehlers Danlos syndrome. This case can get worse like in the case of Emily Comber.

Ehlers-Danlos Syndrome is a condition that necessitates awareness, understanding, and support since there is currently no cure or treatment for it. By shining a light on these cases, we hope to foster a better understanding of the challenges faced by those living with the condition.

---

---

Reference

---

---

• Image 1 || Wikimedia Commons || Hypermobile (double jointed) thumb reaches forearm backwards
• Image 2 || Wikimedia Commons || Hypermobility
• Image 3 || Wikimedia Commons || Gary "Stretch" Turner