"At this point in time, I put EDS in the category of being in the top three or four most severe pain problems . A lot of people for example think that cancer pain is the worst pain, but let me assure you that many EDS patients have pain far beyond any cancer patient I've ever seen. And so it's one of the pain problems that is severe, has been very troublesome, many physicians are afraid of the disease and of the kind of pain that EDS patients have." - Dr. Forest Tennant
"No other disease in the history of modern medicine, has been neglected in such a way as Ehlers-Danlos Syndrome" - Professor Rodney Grahhame
Ehlers-Danlos Syndromes are a group of genetic connective tissue disorders that are classified into thirteen subtypes. These syndromes specifically affect collagen, a type of protein fiber that provides strength and cushioning throughout the entire body. Collagen is the most abundant protein in the human body and is a major component of connective tissue found in ligaments, tendons, skin, and muscles. Connective tissue is a form of glue for your body, it provides strength and support to skin, bones, digestive system, blood vessels, organs, eyes, and joints. When someone has EDS, the connective tissues are extremely loose and don’t hold things as stable as they should, which can lead to various complications and severity of symptoms. The most common characteristics of EDS among patients include joint hypermobility, joint pain, soft velvety-like skin, skin hyper-extensibility, fragile skin, slow and poor wound healing, severe scarring, tissue fragility, and chronic pain. Along with symptoms that affect the entire body, it is essential to realize that every single person with EDS has a unique experience, different pains, and different symptoms. Despite the large implications of EDS, there is no cure or direct treatment and, as the body continues to wear and tear, the severity of symptoms worsens. Patients are left to try and manage individual symptoms through various treatments, but often struggle to find an effective solution. Additionally, as EDS is an invisible disease, it creates social problems that are sometimes even worse than the physical pain. It makes it so others, including doctors, disregard the pain that patients experience and makes it extremely difficult to feel understood. It is very difficult and rare for patients to encounter someone in the medical field that has even heard of EDS before. As you can imagine, this creates an entire new problem; the one place patients are supposed to be able to turn to for medical help often does not understand the extent of suffering the patient is experiencing or even know any information about the disease. This creates years of suffering to constantly be dismissed by doctors as they claim that there is nothing wrong with the patient, simply because they don't understand the disease. Therefore, many EDS patients are left to become their own advocates, they compile their own research on the disease so they can help educate others, including those in the medical field.
Quick Facts
Prevalence: Rare, fewer than 200,000 U.S. cases per year (of all subtypes). Depending on the subtype, the prevalence can range from 1 in 10,000 people, to the most rare subtype only having 12 recorded cases.
Cause: Patients can either inherit EDS from their parents (can be dominant or recessive form depending on the subtype) or have a random genetic mutation making them the first person in the family to have EDS.
Common Symptoms Among All Types of EDS:
Joint hypermobility
Loose/unstable joints (prone to dislocations and/or subluxations)
Joint pain
Soft velvety-like skin
Skin hyper-extensibility
Fragile skin (tears or bruises easily)
Slow and poor wound healing
Severe scaring
Tissue fragility
Chronic pain
Areas affected: EDS directly affects any area of the body that there is connective tissue. This then leads to an indirect impact of the entire body, where the faulty connective tissue triggers other parts of the body to deteriorate. This makes EDS a disease that truly can impact, damage, and cause pain to any aspect of your body. EDS directly and indirectly impacts each individual differently and therefore a “typical” set of symptoms or experiences does not exist for this disease. However, based on the direct impact of having faulty collagen, here are some possible ways that the different areas of the body can be impacted.
Skin: Discoloration, transparent, easy bruising and tearing, poor and slow wound healing, abnormal scarring, heat/sun rashes, unexplained rashes, soft velvety skin, eczema, and overly dry skin
Bones, joints, muscles, tendons, ligaments: Chronic musculoskeletal pain, hypermobility, subluxation, dislocation, prone to injuries, early-onset of osteoarthritis, TMJ, sprains, osteoporosis (weakening of the bones), muscle spasms, poor healing, myalgia (muscle pain), arthralgia (joint pain), degenerative disks, joint instability, tendon and muscle rupture, scoliosis, stiffness, and swelling
Digestive system: Bloating, nausea, vomiting, heartburn, diarrhea/constipation, reflex, abnormal break down of medication, and food sensitivity
Blood vessels: Tears and rupture (can lead to internal bleeding and other potentially life-threatening complications), aneurysm, and varicose veins (spider veins)
Organs: Increased risk of organ rupture, abnormalities with the heart, prolapse, chest pain, and hernias
Eyes: Visual changes, vision loss, damage to the structure of the eye, light sensitivity, glaucoma, nearsightedness, intermittent blurry vision, dilated pupils, and droopy eyelids
Ears: Random high-pitched ringing, noise sensitivity, and frequent ear infections
Brain: Brain fog (memory loss/ poor concentration), chronic fatigue, sleep disturbances, dizziness and fainting, difficulty focusing, poor condition/balance, chronic headaches/migraines, delay in motor skills, dysfunction of the autonomic nervous system, chronic depression, higher anxiety levels, and over active adrenaline
Entire body: Chronic pain in any/multiple areas, allergy issues, flu-like/cold symptoms, night sweats, temperature intolerance, weakness, numbness/tingling (especially in extremities), chronic cough, motion sickness, fever, alcohol intolerance, and asthma
People With EDS May Also Experience:
Postural Orthostatic Tachycardia Syndrome (POTS): blood flow does not correctly adjust to a change in body position, results in dizziness/fainting, heart palpitations, and even seizures
Mast Cell Activation Syndrome (MCAS): an immunological condition where your cells inappropriately react to everything, triggering allergic reactions (hives, rashes, fatigue, swelling, pain, etc.)
Digestive disorders: specifically, Irritable Bowel Syndrome
Chronic Fatigue Syndrome (CFS)
Small fibre neuropathy (nerve damage)
Sleep disorders, such as insomnia
Depression (treatment-resistant depression), anxiety, and other emotional disturbances
Bladder dysfunction
Dental, oral, and voice problems: overcrowding of teeth, weak teeth, TMJ
Pregnancy complications: specifically, preterm labor, painful carrying of the baby, and miscarriages
Surgery complications/ not responding to local anesthetics
Hashimoto’s Thyroiditis: an autoimmune disease that damages the thyroid gland
Fibromyalgia: widespread musculoskeletal pain that is accompanied by fatigue, sleep, memory, and mood issues
Scoliosis: sideway curvature of the spine
Reynaud’s Phenomenon: rare disease where the narrowing of blood vessels makes it so blood can’t get to the surface of the skin, making areas of the body turn white and blue
Keratosis Pilaris: small red bumps on upper arms that come and go
Piezogenic Papules: small fatty raised nodules on the inside of heels
Asthma: narrowing, swelling, and extra production of mucus in the airway
Severity: Depending on the subtype and on the individual, the severity can range from self-limiting and mildly loose joints to life-threatening complications. For most patients, having EDS results in a disability while also greatly diminishing their quality of life.
Diagnosis: Due how misunderstood and silenced EDS is, patients often spend years to a lifetime looking for a diagnosis. It takes an average of 19 years for an individual with EDS to be diagnosed! Patients often have to reach out to various different types of doctors before one even considers EDS to be an option (or even knows what EDS is). A diagnosis is then made by analyzing the family/patient’s medical history, examination of symptoms, Beighton Scale to test for hypermobility, and examination of skin. A diagnosis of an EDS subtype is made matching symptoms, following clinical criteria, and genetic testing (available for every type of EDS except for Hypermobile EDS). For hEDS, diagnosis is made based on the previous identified methods plus the exclusion of any other possible causes.
Treatment: Due to the genetic aspect, there is no cure or any direct method to treat EDS. Symptoms can be managed through Ketamine, various therapies, opioids, marijuana, and other methods. Due to patients experiencing so many symptoms, they primarily focus on their most debilitating symptoms to manage and then become immune to the less severe symptoms. When it's already nearly impossible to find ANY relief, patients learn to pick and choose their battles wisely.
Timeline: Chronic, for a lifetime. As the body continues to wear and tear, the severity of symptoms often worsens.
https://www.ehlers-danlos.com/what-is-eds/
https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/
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