Ehlers-Danlos Syndrome: So Many Symptoms, So Little Time

In truth, I would be an absolute lunatic to try and lay out every symptom of Ehlers-Danlos Syndrome (EDS). The simplest way I explain my condition to inquiring people is to say “The glue in my body doesn’t work. It’s genetic.”  Not exactly a textbook answer, but let’s face it, without getting into a bunch of mumbo-jumbo genetic jargon about defective collagen and explaining it’s something almost every system in your body requires, it functions pretty well as an all-inclusive answer. However, due to curiosity by family and friends and in the hopes of getting valid information out to those who are suffering and going undiagnosed, I decided to blog about EDS.

Like many EDS sufferers, it is easier to say, “I’m okay,” or “I’m hanging in there,” than go through the process of explaining/complaining. The painful details tend to remain with my doctor and my family. The process of diagnosis is long, tedious, and takes years because little consistent information about Ehlers-Danlos Syndrome is out there. In part, this is due to the medical system’s philosophy of dealing with each symptom on an individual basis, relatively low physician awareness of Ehlers-Danlos Syndrome, and the diversity of the EDS symptoms.

Although there are anywhere from six to ten types of Ehlers-Danlos syndrome described in medical literature, I have tried to put together a comprehensive list of typical EDS problems and a short explanation of each below. If the symptoms are specific to a certain form of EDS, I will mention it in the comments:

Hyperflexibility: Sometimes referred to as “double-jointed” or “bendy.” There is a test for flexibility called the Beighton score which gives a score of 1-9 for flexibility in certain joints. A score of four or higher with other accompanying symptoms is generally thought to accompany EDS. It should be noted though, that as a person gets older, flexibility decreases. Hyperflexibility should never be the singular diagnosis for EDS.

Joint pain, dislocation or subluxation (partial dislocation) of joints, frequent sprains:  Often no evidence of significant findings are noted on x-ray, making it particularly frustrating to those dealing with chronic pain. Temporomandibular joint dysfunction (TMJ), hip, back, shoulder and other large joint dysfuctions are common.

Early onset of Osteoarthritis: Arthritis is pretty common in the elderly as joints age, but people with EDS may be diagnosed quite early in life. I was diagnosed with hip and knee arthritis in my mid-twenties. It should be noted that this is OSTEO arthritis (OA) and not RHEUMATOID Arthritis (RA). RA is a totally separate inflammatory disease of the small joints and tissues. OA is the arthritis from general wear and tear in the joints causing loss of cartilage.

Constant cracking or “popping” noises in the major joints, joint weakness: Since her childhood, my daughter told me I had given her “hand-me-down knees.” How true it is. The thought of squatting down and getting back up has been off-limits since I was a teen.

Soft skin, sometimes described as “velvety or “baby’s skin” and/or flexible skin: This does not mean that your skin stretches like Stretch Armstrong, but merely it is loose. Easy places to look at this phenomenon are the back of the hand and the tip of the elbow. Often this looseness causes a premature wrinkling to the hands (I have said since my thirties that I had “old lady hands”) The soft skin of EDS is due to its thinness and often the veins can be seen below the skin surface.

Fragile skin which bruises easily: Unexplained bruises, bug bite bruises, and minor hits causing large blue marks are all common. Blood clotting testing by prothrombin time (PT) is generally normal. The blood vessels merely have a difficult time healing after being injured allowing excess blood under the skin surface. A prime example of bruising for me is the evil automated blood pressure cuff. At my MD visit yesterday, it left three long thin bruises on my upper arm. I really need to insist on manual taken blood pressures.

Thin scar tissue and difficulty healing wounds: Cuts and bruises take long periods of time to heal and may leave tissue paper thin scars for even minor wounds. Also, minor hits can cause the skin to tear easily. This is a nightmare when you want to look nice. I try to be extremely gentle on my skin to prevent these problems, but a brush against the edge of the mirror frame in our foyer just left a small gash on my forearm I know I will be seeing for months. The most amusing scar ever received in our family came from when my youngest daughter was sword-fighting her brother with baguettes (yep, that’s right – thin french bread – they are teens, what can I say?). He swiped her upper arm, and two years later, she still has a thin-lined scar. At least we can laugh about it.

Chronic fatigue: Self explanatory. Some days it is hard just to get out of bed or get into the shower. Often the chronic pain of joints and tissues accompanied by insomnia are major contributing factors, although sometime the actual diagnosis of Chronic Fatigue Syndrome is diagnosed.

Insomnia: Joint pain and an increase in adrenaline are thought to be primarily responsible for the night-time restlessness and lack of deep sleep in EDS patients. My daughter’s rheumatologist put it concisely: “Good sleep is the most important factor in dealing with the majority of symptoms.” While I believe that to be true, it often eludes me, leaving me irritable and fatigued several days a week.

Anxiety and restlessness: Also thought to be a factor of increased adrenaline. That “fight or flight” mechanism that adrenaline gives you during stressful situations is often the cause of sensitive, worrisome thoughts and feelings in people with EDS. Added to the constant worry of being a burden or being thought a hypochondriac (often from years of misdiagnosis) it is no wonder that anxiety and stress can be debilitating in some EDS patients. There is some research being done that suggests beta-blockers might decrease the anxiety more than the common medications prescribed such as SNRIs and SSRIs, but the jury is still out. I actually take both a beta blocker and SNRI, but although I am better than before, I still have the occasional anxiety attack. My restlessness, I am convinced, is also from my bodies inability to go and do like I wish. The frustration of occupying the mind when the body can’t cooperate is a frequent source of boredom and restless feelings in our house.

Fibromyalgia or myalgia: Muscle pain whether due to fibromyalgia syndrome or simply myalgia. Fibromyalgia encompasses several symptoms including muscle pain, numbness and tingling, and stiffness. The frustration of myalgia is that the pain tends to rotate from place to place depending on prior activity. My daughter has problems almost constantly with her left back and rib cage. I have problems with my forearms and shoulders.

Migraines: The cause of migraines and chronic headache may result from multiple causes. Primarily these are problems with how the blood vessels in the brain react and the release of prostaglandins (a lipid compound which comes from fatty acids). Think of prostaglandins as “more equals headache.” Certain foods, alcohol, aged cheeses, not eating properly, stress, insomnia and the female menstrual cycle increase prostaglandin production causing pain. Unfortunately, many protaglandin-inhibiting medications are not a good idea for those of us with EDS. Ibuprophen (Advil/Motrin), Naproxen (Aleve/Naprosyn/Anaprox) and aspirin are particularly useful as preventatives, but are not a great idea with the EDS sufferer’s digestive sensitivity and tendency to bleed easily.  For most migraines, a major serving of prevention is the best medicine. Preventative meds are best prescribed by a neurologist who can rule out any underlying diseases that might cause chronic headaches. Caffeine, Acetaminophen (Tylenol), sleep, and time seem to work best for most of my migraines, but occasionally a triptan medication such as Maxalt or Imitrex is necessary.

Difficulty regulating body temperature: This often makes extreme cold or heat off limits to EDS sufferers. I just simply tell people my thermostat is broken. Many EDS sufferers can get dizziness and fatigue simply sitting outside in the heat. Sometimes, I just seem to be cold and need the heat up for no particular reason. Now that I am entering menopause, it is less frequent, but my daughters are still chronically cold so we like to argue over the thermostat on the air conditioner/heater.

Dental crowding, high palate and fragile teeth: Dental crowding, teeth grinding and TMJ are great for setting up tooth breakage in EDS patients. The enamel which protects teeth is often under-developed. This, plus dry mouth due to many medications taken by EDS sufferers makes small cracks in the teeth and breakage is possible even without cavity formation. My youngest daughter had her first root canal at the age of nineteen. I have broken three molars requiring repair in the last four years.

Mouth ulcers: Sometimes several will occur in the mouth at the same time making eating and chewing difficult. Research points to fragile tissues and increased infection rate. I am fortunate and suffer from this far less often than my girls do.

Food and medication allergies and sensitivities: Trial and error is necessary sometimes when creating the right regimen of medication for people with EDS. What works for one person may have debilitating side effects for another. Food allergies and sensitivities can be as simple as avoiding shellfish like with my oldest son, or as difficult as complete gluten and dairy avoidance as required by my youngest daughter. Balancing allergies can make mealtime challenging in a household of EDS sufferers.

Spinal deformities: Scoliosis (curvature of the spine) and Kyphosis (thoracic hump) are common, but not always found in people with EDS. My oldest daughter and my sister have Scoliosis and my grandmother had Kyphosis.Since things like this do not occur in all EDS patients, it is important to have a complete family history available for your physician if you are being diagnosed.

Cardiac and vascular abnormalities: Although the majority of EDS sufferers with heart and major blood vessel problems have Vascular EDS (also called Type IV), it is advisable to follow-up with your physician regularly about your heart and blood vessel status no matter what Type you have. Cardiac and blood vessel symptoms include aneurysms of the aorta, mitral valve prolapse and varicose veins.

Dysautonomia and/or Postural Orthostatic Tachycardia Syndrome (POTS): Dysautonomia involves several of the body’s regulatory systems such as heart rate, breathing and blood pressure. POTS is common in EDS causing a significant drop in heart rate and blood pressure when going from laying flat to standing or from excessive standing. This can result in light headedness, near fainting or fainting, generalized weakness or temporary loss of vision. Sometimes dysautonomia can be the cause of many symptoms including slow emptying of the stomach, diarrhea, heart palpitations, and nausea or vomiting.

Raynaud’s phenomenon and/or acrocyanosis: Raynaud’s phenomenon causes restriction of the artery flow to the fingers or toes due to cold exposure or stress. Sometimes it is referred to as the “patriotic disease” because the digits go through three phases – blue (cyanosis – decreased flow), white (no flow) and red (flush as the arteries re-open). Acrocyanosis refers to cyanosis (blueish purple color) of the hands and/or feet. Neither Raynaud’s or Acrocyanosis are considered serious, although staying away from cold temperatures and handling cold items such as ice and freezer products is helpful. As long as no underlying artery blockage occurs, both are considered benign.

Spacial issues, Sensory processing disorders and memory: In Ehlers-Danlos, the brain sometimes does not receive the the right information about where the body is in space or the body moves before the brain is in gear. This causes clumsiness, bumping into things and sometimes happens so often that unknown bruises just happen. It is important to know that you can have sensory processing issues without EDS, just as it is possible to have both. Many people refer to their problem as “brain fog.” I like that term because like fog, it comes and goes, waxing and waning depending on a variety of factors including fatigue level, amount of sleep, and stress. Sometimes, however, it just creeps in and remembering what I was doing or saying flies right out the window. My husband is a patient man and tries hard not to finish my sentences for me when this happens unless I ask for help.

Malabsorption and malnutrition: Chronic nausea and the inability to absorb the proper nutrients in food can cause increases in symptoms such as gas and bloating, fatigue, growth abnormalities or muscle wasting/weakness. It is extremely important to have your physician check for malabsorption and to eat well-balanced meals if diagnosed with Ehlers-Danlos. Vitamin deficiencies of B, C, and D, plus the minerals calcium and magnesium have all been associated with EDS.

Flat feet (fallen arches): This occurs when the instep of the foot comes in contact with the ground when a person is standing. It can cause increased fatigue, weakness or pain in the foot, ankle or lower leg.

Cysts: Small multiple cysts are common in some patients with EDS, although most likely in  Classic EDS (known as Types I and II)  Also, due to joint arthritis, Baker’s cysts (a collection of fluid behind the knee due to leaking of the joint’s lubrication) are sometime noted. I have had to have multiple cysts removed from my feet (I do not recommend it – healing with EDS after any surgery is tough, but on the bottom of the foot took FOREVER!).

Keratosis Pilaris (KP): Although not a direct symptom of EDS, these small acne-like bumps which occur in patches on the backs of the arm, thigh and sometimes the calf or face are noted to be more common in EDS sufferers. Keratin deposits fill the hair follicle making small white bumps which are difficult to get to disappear. Although KP does not cause significant health problems, it is a royal pain from a cosmetic standpoint. Winter is the worst time, when the skin is drier. I can slather on the lotion, but simply shaving my legs can become problematic. Also, it prevents me from wearing the clothing I want since I am sensitive about its appearance on my upper arms and lower legs. Sleeveless with shorts is not my preferred summer attire.

Chronic respiratory infections and throat/strep infections: Chronic fatigue, allergies (food and airborne), gastric reflux and not enough Vitamin D can all lead to a cycle of immune deficiency and chronic infection in EDS patients. Although it has never been life-threatening, I have reached the point in the winter-time that I just can’t seem to live without a sore spot from steroids and/or antibiotic shots in my rear.

Prolapsed uterus, bladder or bowel: When the muscles and ligaments of the pelvic floor become weak, it is possible for the uterus, bladder or intestines to collapse into the vaginal area. Since supportive ligaments require collagen, it is possible to see this develop in young females with EDS. Uterine prolapse can cause an uncomfortable sagging pressure in the pelvic area, back pain that gets better with lying down or painful intercourse. Intestinal prolapse may cause difficulty having a bowel movement or constipation. Bladder prolapse can cause difficulty urinating, incontinence (especially with sudden movement, coughing, sneezing or laughing) and frequent urination. Having dealt with both uterine and bladder prolapse in my thirties, I can say that there are good solutions to both. All prolapse repairs require surgery (hysterectomy, bladder sling, TVTO, etc.) but the prevalence of symptoms can be lessened significantly by intervention.

The best person to diagnose Ehler-Danlos syndrome is a rheumatologist or geneticist. Proper diagnosis includes an extensive physical and family history and don’t be surprised if the physician does not want to make a diagnosis right away. Separating EDS from many other disorders such as Multiple Sclerosis, Chronic Fatigue and Chiari Malformations (to name a few) takes time, and sometimes the conditions are seen together (comorbid).

Currently only palliative measures are available for EDS. This means that you can treat the symptoms, but the underlying cause of Ehlers-Danlos still has no cure. A physician with the proper training should be able to refer you to the best medications, physical therapy, bracing and exercise regimens for your individual comfort.

To all the families out there struggling with this: Patience and understanding is the best support you can give your EDS family members. Knowing that their pain is not trivialized simply because it is not seen can make all the difference on a bad day.

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