The contortionist at the circus might just be one in 5,000 people worldwide to have the Ehlers-Danlos Syndrome (EDS) – a group of disorders that affects connective tissues, which supports the skin, bones, blood vessels and other vital organs. EDS is usually characterised by joint hypermobility and skin hypersensitivity – both conditions that allow the joints and skin to be stretched further than normal.

Though seemingly superhuman, EDS causes progressive deterioration of the connective tissue in joints and organs, that eventually patients will have trouble keeping themselves together as the connective tissue will fail to hold organs, ligaments, spinal cord and the peripheral nerves. Inevitably micro-tears will set in, causing irrepressible pain to a point of disability, which will render the patient bed-ridden.

Recent statistics show that EDS may be more common and can affect either gender without any partiality towards specific racial or ethnic backgrounds. The genetic mutation in EDS can be passed down via one affected parent, but those without family history of the disorder contract EDS through sporadic gene mutations.

Diagnosing the right EDS subtype

There are 13 defined subtypes of EDS, which are classified based on the manifested signs and symptoms. The classical type and hypermobility type of EDS is the most common. People with classical type of EDS tend to have wounds that split open over time with little bleeding. The skin is soft, elastic and fragile, subjecting them to bruises and injuries.

In the hypermobility type, patients have an unusually large range of joint movements. The loose joints are unstable and causal for dislocation and chronic pain. Children with hypermobility type of EDS will have a weak muscle tone, which causes them developmental delays like sitting and walking.

The vascular type is potentially life-threatening as blood vessels may unpredictably rupture, causing the body to bleed internally, have a stroke or go into shock. Catastrophic organ rupture may also take place, including cerebral vascular rupture and uterus rupture during pregnancy.

Diagnosing EDS begins with an examination, answering a brief survey, being weighed against the Brighton test scale to assess for joint mobility, skin elasticity and abnormal scarring as well as interrogation of family history. Finding the right subtype of EDS for the manifested signs and symptoms is crucial in treating the disorder.

The Brighton test score to measure joint hypermobility. Photo credit: Practical Pain Management
The Brighton test score to measure joint hypermobility. Photo credit: Practical Pain Management

High opioids to treat EDS symptoms

Getting the right diagnosis of the different EDS subtype will point out the origin and cause of the disorder, and when a cure is found, it can be easily used. There is no present cure for EDS, however it is treatable. The symptoms can be managed to avoid further complications.

EDS patients suffer light-headedness, can be hard of hearing, digestive issues as well as fatigue—most probably attributed to the hard work of keeping the body intact. The life expectancy for patients with EDS varies with type. Ones with the vascular subtype may expire earlier than others due to the unpredictable blood vessel rupture of major organs.

Living with EDS in the severest form is one laced with pain, and patients with this seldom live past 50 years old. The most effective treatment then is aggressive pain therapy in high dosage for the symptoms.

High-dose opioids, coupled with supplemental hormones to be taken as necessary and differs by patient is an efficient pain management. Hormones such as the growth hormone, human chorionic gonadotropin, oxytocin and nandrolone appear to slow deterioration and restore connective tissue.

Blood pressure is also monitored so as not to cause them stress due to their fragile state. Apart from that, physical exercise will help in strengthening muscles and stabilise joints to avoid dislocation. Specific braces may also help in preventing joint dislocations. MIMS

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Sources:
https://www.statnews.com/2017/10/16/joints-injuries-medical-mystery/
https://www.ehlers-danlos.com/what-is-eds/
https://www.practicalpainmanagement.com/pain/neuropathic/ehlers-danlos-syndrome-emerging-challenge-pain-management
https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#