Ehlers Danlos Syndrome, or EDS, is one of many connective tissue disorders and shares features of Marfan Syndrome and Osteogenisis Imperfecta (Brittle Bone Disease). In EDS, the genes have the wrong instructions for making collagen, so the collagen is faulty. Collagen is found throughout the body – it is made up of rubber-band like fibers that allow the body to move and flex and that support the organs.
Normal collagen is like a sturdy rubber band – it stretches, then rebounds to its original form. The collagen of someone with EDS is more like bubble gum – it stretches too far, becomes brittle, tears and shreds. Imagine trying to hold your body together with bubble gum!
Collagen is the most abundant protein in the body – it is found in the skin, joints, organs, blood vessels, eyes, ears, vocal chords, etc. For a person with faulty collagen, the list above is where problems can exist. Often, people with undiagnosed EDS will present a long list of seemingly unrelated symptoms to their doctor, who may never put the pieces together. Once the common thread of faulty collagen is found, all of the symptoms make sense.
Here is a sampling of problems that are caused by EDS:
Skin: stretchy (from mildly to extremely extensible), velvety smooth, fragile, easy bruising, easy tearing, scarring; poor wound healing.
Joints: the ligaments, tendons and cartilage are all affected causing hypermobile, lax joints which bend past neutral. The hypermobility can affect one joint or every joint in the body. Frequent, spontaneous dislocations and subuxations (partial dislocation) can occur, causing damage to joints and result in frequent injuries and long term damage. Chronic pain also is common and debilitating. Early onset of osteoarthritis, due to damaged joints, is common in EDS.
Cardiac: The valves in the heart can be lax and prolapse, the aortic root can be dilated.
Gastrointestinal: From GERD to IBS to gut paralysis, and everything in between. GI problems are often incredibly painful and challenging for EDSers.
Autonomic Dysfunction: Postural Orthostatic Tachycardia Syndrome, neurally mediated hypotension, Reynaulds (all caused by lax blood vessels which respond sluggishly to the brain’s signals). Can also be neurological in origin or caused by Mast Cell Disease, particularly in the hyperandrenergic type of POTS .
Neurological: Not only is Chiari Malformation associated with EDS, Cervical Instability and Tethered Cord are also common and both can cause serious neurological symptoms and irreversible complications. High intracranial pressure and Mast Cell Disease are now believed to be at the root of many neurological complications for many EDSer. EDS patients are often misdiagnosed with MS and EDS patients are significantly more likely to develop MS.
Vascular: Specific to the Vascular type of EDS, blood vessels and hollow organs can rupture, causing a life threatening emergency. Other types can have cross-over vascular symptoms, but they are typically not as serious as in the Vascular type. Fragile vasculature is common in all types.
Bones: Bones can be fragile and osteoperosis can occur at at early age.
Organs: The lung tissue being extremely lax can cause asthma; the bladder, bowel and uterus can prolapse.
Eyes: dislocated/subluxed lens, retinal tears, dry eyes, and a variety of other vision problems.
Ears: The joints between the tiny bones in the ears can dislocate and cause hearing problems.
Throat: Swallowing difficulty, voice/speech problems
Dental: Teeth are fragile and sometimes break easily, gum disease – EDS folks are often accused of poor dental hygiene even when they take conscientious care of their teeth. Teeth, which are held in place by ligaments, move easily and orthodontic work is easily undone.
In addition, EDS patients often find that local anaesthetics do not work properly. Also, proprioception (your brain’s ability to sense where body parts are) tends to be impaired, predisposing the person to injury.
Because the problem is caused by a mutation in the genes, there is no cure for EDS. Nothing can make the collagen normal. The best nutrition in the world and a host of supplements will still result in faulty collagen.
Treatment focuses on addressing the symptoms and preserving joint health: Physical and Occupational therapy are essential for strengthening muscles but must be done with the greatest of caution so as to not cause damage to fragile joints. All of the various problems mentioned above must be treated as they come. Surgery is problematic due to skin fragility. An experienced, knowledgeable surgeon is a must. Surgery often does not yield the hoped for results, but may be necessary.
Many doctors know little or nothing about EDS – often even specialists fail to offer needed help. Unfortunately, the earlier one gets a diagnosis, the better the prognosis so the lack of knowledge among medical professionals can be devastating. Left untreated and unacknowledged for years, patients endure endless injuries and long-term damage while being dismissed as lazy, crazy, hypochondriacs, drug seeking, attention seeking. People in their 30s are told they just have growing pains.
If you think you or a loved one might have Ehlers Danlos Syndrome, it is imperative to educate yourself and your doctor. It would be ideal to find a doctor who is knowledgeable about EDS, but sometimes that is not an option. Being your own expert and advocating for yourself or loved one is essential. Getting to a knowledgeable rheumatologist and a geneticist is the way to a diagnosis.
Also, it is important to realize that the condition varies significantly from person to person: One person may only have aches and pains and the occasional injury – perhaps not even knowing they have it. Another person may suddenly have serious symptoms that leave them largely incapacitated. A child may struggled from the time they start to walk. Each person is absolutely individual in how the condition manifests in their lives.