The Symptoms

The symptoms of Ehlers-Danlos are not unique. This often leads to misdiagnoses. World-renowned EDS expert rheumatologist, Professor Rodney Grahame, from the University College London, Department of Rheumatology, states that in America, almost 650,000 cases of EDS are missed, annually. Studies suggest, 95% of EDS cases which present to clinics are missed, with most patients being diagnosed with other things, such as Rheumatoid Arthritis, Fibromyalgia, Myalgic Encephalomyelitis (ME), Chronic Fatigue Syndrome (CFS), Thyroid Issues, Hypochondriasis, etc. When you take statistics such as this one into account, there is a good chance you could have been misdiagnosed. 

Symptoms can range from mild to severe and you do not have to have all of the symptoms listed to have Ehlers-Danlos, as the symptoms can differ dramatically from person to person. However, if you find yourself ticking off more of them than not, it is worth having a talk with your doctor if you have not yet been diagnosed.

Migraines


Migraine is a neurological disease characterised by recurrent moderate to severe headaches, often in association with a number of autonomic nervous system symptoms. Typically, the headache affects one half of the head, is pulsating in nature, and lasts from 2 to 72 hours. Associated symptoms may include nausea, vomiting, and sensitivity to light, sound, or smell. The pain is generally made worse by physical activity. Up to one-third of people with migraine headaches perceive an aura: a transient visual, sensory, language, or motor disturbance which signals that the headache will soon occur. 


Motion Sickness 


Motion sickness, or kinetosis, is a condition in which a disagreement exists between visually perceived movement and the vestibular system's sense of movement. Dizziness, fatigue, and nausea are the most common symptoms of motion sickness. If the motion causing nausea is not resolved, the sufferer will usually vomit. Vomiting often will not relieve the feeling of weakness and nausea, which means the person could vomit until the cause of the nausea is treated.

Allergies 


Allergies are a number of conditions caused by hypersensitivity of the immune system to something in the environment that normally causes little problem. These disease include hay fever, food allergies, atopic dermatitis, allergic asthma, and anaphylaxis. Symptoms may include red eyes, itchy rash, runny nose, shortness of breath, swelling, and in severe instances, death. Food intolerances and food poisoning are separate conditions. Allergies are common. In the developed world, about 20% of people are affected by allergic rhinitis, about 6% of people have at least one food allergy, and about 20% have atopic dermatitis at some point in time. 

Asthma


Asthma is a common, chronic, inflammatory disease of the airways characterised by variable and recurring symptoms, reversible airflow obstruction, and bronchospasm. Common symptoms include wheezing, coughing, chest tightness, and shortness of breath. It is thought to be caused by a combination of genetic and environmental factors.

Eczema (Dermatitis)


Dermatitis, also known as eczema, is inflammation of the skin that is characterised by itchy, vesicular, weeping, and crusting patches. The term eczema is broadly applied to a range of persistent skin conditions. These include dryness and recurring skin rashes that are characterised by one or more of these symptoms: redness, skin swelling, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. Areas of temporary skin discolouration may appear and are sometimes due to healed injuries.

Varicose Veins/Spider Veins


Varicose Veins are veins which have become enlarged and twisted. The term commonly refers to the veins of the leg, however varicose veins can occur elsewhere. When veins become varicose, the leaflet valves, which prevent blood from flowing backwards, no longer meet properly, and the valves do not work. Besides being a cosmetic problem, varicose veins can be painful, especially when standing. Severe long-standing varicose veins can lead to leg swelling, venous eczema, skin thickening, and ulceration.


Irritable Bowl Syndrome (IBS)


Irritable Bowel Syndrome (IBS), or spastic colon, is a symptom based diagnosis. It is characterised by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits. Diarrhoea or constipation may predominate, or they may alternate. As a functional gastrointestinal disorder, IBS has no known organic cause. Onset of IBS is more likely to occur after an infection, or a stressful life event, but varies little with age. The most common theory is that IBS is a disorder of the interaction between the brain and the gastrointestinal tract. For at least some individuals, abnormalities in the gut flora occur, and it has been theorised that these abnormalities result in inflammation and altered bowel function.

GERD/Gastric Reflux/Acid Reflux


Gastroesophageal reflux disease (GERD) is a chronic digestive disease. GERD occurs when stomach acid or, occasionally, stomach content, flows back into your food pipe (esophagus). The backwash (reflux) irritates the lining of your esophagus and causes GERD. Both acid reflux and heartburn are common digestive conditions that many people experience from time to time. When these signs and symptoms occur at least twice each week or interfere with your daily life, or when your doctor can see damage to your esophagus, you may be diagnosed with GERD. Most people can manage the discomfort of GERD with lifestyle changes and over-the-counter medications. But some people with GERD may need stronger medications, or even surgery, to reduce symptoms.Nausea

Gastroparesis (GP)


Gastroparesis is a condition in which the spontaneous movement of the muscles (motility) in your stomach does not function normally. Ordinarily, strong muscular contractions propel food through your digestive tract. But in gastroparesis, your stomach's motility works poorly or not at all. This prevents your stomach from emptying properly. Gastroparesis can interfere with normal digestion, cause nausea and vomiting, and cause problems with blood sugar levels and nutrition. The cause of gastroparesis is usually unknown. When this is the case, it's called idiopathic gastroparesis (IG). When people who have diabetes develop gastroparesis, it's called diabetic gastroparesis (DG). Some people develop gastroparesis after surgery. There is no cure for gastroparesis, but changes to your diet, along with medication, can offer some relief.

Hernias


A hernia is the exit of an organ, such as the bowel, through the wall of the cavity in which it normally resides. Hernias come in a number of different types. Most commonly, they involve the abdomen, specifically the groin. Groin hernias are the most common of the inguinal type but may also be femoral. Other hernias include hiatus, incisional, and umbilical hernias. Another common hernia involves the spinal discs and causes sciatica. A hiatus, or hiatial, hernia occurs when the stomach protrudes into the mediastinum through the oesophageal opening in the diaphragm. 

Diverticulitis


Diverticulitis is a common digestive disease which involves the formation of pouches within the bowel wall. This process is known as diverticulosis, and typically occurs within the large intestine, or colon, although it can occasionally occur in the small intestine as well. Diverticulitis results when one of these diverticula becomes inflamed. People often have left lower quadrant abdominal pain and tenderness, fever, and an increased white blood cell count. They may also complain of nausea or diarrhoea; others may be constipated. The severity of symptoms depends on the extent of the infection and complications. Less commonly, an individual with diverticulitis may have right-sided diverticula or a highly redundant sigmoid colon. Some patients report bleeding from the rectum. 

Bendy Joints/Joint Hypermobility


Hypermobility describes joints that stretch further than normal. For example, some hypermobile people can bend their thumbs backwards to their wrists, bend their knee joints backwards, put their leg behind their head, or perform other contortionist "tricks". It can affect one or more joints throughout the body. The condition tends to run in families, suggesting a genetic basis for at least some forms of hypermobility. The term double jointed is often used to describe hypermobility; however, the name is a misnomer and should not be taken literally, as hypermobile joints are not doubled/extra in any sense.

Most people have hypermobility with no other symptoms. Approximately 5% of the healthy population have one or more hypermobile joints. However, people with "joint hypermobility syndrome" are subject to many difficulties. For example, their joints may be easily injured, be more prone to complete dislocation due to the weakly stabilized joint and they may develop problems from muscle fatigue (as muscles must work harder to compensate for weakness in the ligaments that support the joints). Hypermobility syndrome can lead to chronic pain or even disability in severe cases. Musical instrumentalists with hypermobile fingers may have difficulties when fingers collapse into the finger locking position or may display superior abilities due to their increased range of motion for fingering - such as in playing a violin or cello.

Hypermobility may be symptomatic of a serious medical condition, such as Stickler Syndrome, Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, rheumatoid arthritis, osteogenesis imperfecta, lupus, polio, Down syndrome, morquio syndrome, cleidocranial dysostosis or myotonia congenita. Hypermobility has been associated with chronic fatigue syndrome and fibromyalgia. Hypermobility causes physical trauma (in the form of joint dislocations, joint subluxations, joint instability, sprains, etc.). These conditions often, in turn, cause physical and/or emotional trauma and are possible triggers for conditions such as fibromyalgia.

During pregnancy, the body releases certain hormones that alter ligament physiology easing the stretching needed to accommodate foetal growth as well as the birthing process. For women with hypermobility conditions pregnancy-related pelvic girdle, pain during pregnancy can be debilitating due to these two converging factors. Pain often inhibits such women from standing up or walking during pregnancy. The pregnant patient may be forced to use a bedpan and/or a wheelchair during pregnancy (possibly associated with permanent disabilities). The pregnant woman with hypermobile joints will often be in significant pain as muscles and joints adapt to the pregnancy.



The most common type of skin involvement in Ehlers-Danlos Syndrome is very soft skin. This has been called "skin you love to touch". In many cases, this skin would not be perceived as being unusual and would only be noticed by an experienced physician. The texture of the skin often feels velvety, much like a chamois skin. Frequently the feeling is more doughy, which may be related to the abnormal underlying connective tissue structure. The skin is uniformly thin and this feature, as well as abnormal connective tissue structure can be appreciated when the skin is examined under the microscope. Frequently this thinness results in a pale complexion through which underlying blood vessels are easily seen. In Many patients with Ehlers-Danlos Syndrome, the skin is easily stretched, and in some cases, may almost be like a rubber suit. In contrast, skin on the palms and soles and sometimes over the tops of the hand and feet is often loose fitting and wrinkly. Although the skin is ordinarily tight-fitting during childhood and early adult life, it frequently begins to sag during middle life so that premature wrinkling is seen in older patients with Ehlers-Danlos Syndrome. Wrinkly skin may also be present in the newborn and such patient may be misdiagnosed as having cutis laxa, another inherited disorder of connective tissue with similar, but different, features than Ehlers-Danlos Syndrome.



Patients with Ehlers-Danlos Syndrome usually bruise easily. Sometimes the resulting bruise is quite extensive, but ordinarily, clotting of the blood is normal. The bruising results from a problem in the structure of the underlying connective tissue so that it is difficult for blood vessels to close themselves after they are damaged. Moreover, they are more easily damaged because the connective tissues holding them together is abnormal. In a sense, it is like poking pin-sized hole in a rubber sheet. Before long, the hole becomes much larger than pin-sized. In a simple sense, this is what happens to the blood vessels when they are injured.

Frequent Nosebleeds


Nosebleeds can occur spontaneously when the nasal membranes dry out and crack. This is common in dry climates, or during the winter months when the air is dry. The incidence of nosebleeds is higher during the colder winter months when upper respiratory infections are more frequent, and the temperature and humidity fluctuate more dramatically. In addition, changes from a bitter cold outside environment to a warm, dry, heated home results in drying and changes in the nose which will make it more susceptible to bleeding. Nosebleeds also occur in hot dry climates with low humidity, or when there is a change in the seasons. People are more susceptible to bleeding if they are taking medications which prevent normal blood clotting [warfarin (Coumadin), aspirin, or any anti-inflammatory medication]. In this situation, even a minor trauma could result in significant bleeding. The following factors predispose people to nosebleeds: Infection, Trauma, including self-induced by nose picking, Allergic and non-allergic rhinitis, Hypertension (high blood pressure), Use of blood thinning medications, Alcohol abuse, and Less common causes include tumors and inherited bleeding problems.



In some patients the skin can be extremely fragile and splits easily with minimal injury. This is especially true in young children and from some patients, it can be a continual problem and cosmetic nightmare. To compound the problem, would healing is often abnormal, resulting in widened, thinned, disfiguring scars. Would healing is delayed so that occasionally weeks and even months are needed for appropriate scar tissue to form. The resultant scars are often quite thin and of poor quality. In some cases the skin is so fragile that it is difficult to properly close the wound with stitches to achieve an optimal cosmetic result. The stretchy nature of skin and poor underlying connective tissue sometimes causes lacerations to appear larger and more serious than one would expect. Because the skin is easily stretched, under these circumstances, the wound edges can ordinarily be brought together for appropriate closure.

Occasionally, trauma may result in breaks in the connective tissue of the skin so that the underlying fat herniates and later develops calcium deposits. This results in pea to grape-sized bumps ordinarily over the elbows and knees which are sometimes called "pseudotumors". In addition, patients with Ehlers-Danlos Syndrome may have small, hard calcified lumps under the skin which probably are related to injury and subsequent repair. These processes are in no way dangerous, and are not related to cancer.

 Thin Translucent Skin

 The skin is thin and translucent, with veins dramatically visible, particularly across the chest.

Unusual Scarring


Unusual Stretch Marks (Striae)



Post-Exertional Malaise


Post-exertional malaise (PEM) is one symptom of chronic fatigue syndrome (CFS), but is itself more complex than a single symptom. Patients experience fatigue, pain, cognitive difficulties, sore throat, and/or swollen lymph nodes after previously tolerated physical or mental activity. These symptoms may appear immediately after the activity or after a period of delay, and may last days or weeks.


Dyscognition (Brain-Fog)

Positive Gorlin's Sign

 Frequent Ear Infections

Frequent Sore Throats

Joint Pain (Arthralgia)

TMJ

Repetitive Strain Injury (RSI)

Scoliosis

 Kyphosis

Pectus Scavatum

Pectus Carinatum

 Kyphoscoliosis

Vascular/Cardiac Issues

Intolerance of heat/cold

 Insomnia

Anorexia Nervosa

Constipation

Diarrhoea

Rheumatoid Arthritis (RA)

Hashimoto's Thyroiditis

Post Orthostatic Tachycardic Syndrome (POTS)

Orthostatic Intolerance (OI)

Fatigue Conditions (FM/ME/CFS)

Teeth Overcrowding

Periodontitis

Weak, Crumbly Teeth

Unstable Joints prone to Sprains, Dislocations, Subluxations, and/or Hyperextension

Stiff Joints/Muscles

Joints that Click

Early Onset Osteoarthritis

Chronic Degenerative Joint Disease 

Muscle Pain (Myalgia)

 Frequent Tearing of Tendons/Muscles

Raynaud's Phenomenon

Dupuytren's Contracture

Nerve Compression Disorders

Costochondriatis

Neuropathies

Eye Issues

Nearsightedness

Intermittent Blurry Vision

Blue Sclera

Droopy Eyelids

Post-Partum Haemorrhage 

Miscarriages

"Growing Pains"


Fact:: Many folks with EDS have been told that they just had "growing pains", some way into adulthood. And that they would grow out of it. "Growing pains occur in 20% of children aged 2 to 12. Usually, a doctor determines a child has growing pains only by eliminating other conditions." This diagnosis is made after ruling out all organic pathology: inflammatory/noninflammatory, infectious, post-infectious, traumatic, metabolic, tumoral, vascular, hematologic, orthopedic, and benign pathology of children." (Kohmen L, Magotteaux J. "Acute nocturnal and recurrent pain of the limb in Children." Rev Med Liege. 2004; June; 59 (6): 363-6) "Chronic frequently debilitating pain of early onset and diverse distribution is a constant feature in most individuals affected with different types of EDS." "Individuals with EDS experience frequent and severe pain throughout much of their lives. EDS should be considered in the differential diagnosis of chronic musculoskeletal pain." (Sachet.et.al -"Chronic Pain is a Manifestation of the Ehlers-Danlos Syndrome" J Pain/symptoms/ management, 1997; Vol 14, (2), 88-93 see this article in Library section) Those with EDS experience a higher incidence of foot and ankle problems, due to ligamentous laxity. These problems can contribute to degenerative joint disease in the knees and hips. It seems logical that malalignment in the extremities could lead to abnormal forces on the joints and premature degeneration. 

Frequent Infections

Photophobia

Hyperacousia

Heightened Sense of Smell

Symptoms worse after Meals

Arnold - Chiari Malformation

Tethered Cord

Occult Tethered Cord

CCSVI 

Ganglion Cysts

Petechiae

Piezogenic Papules

Skin Tags

Keratosis Pilaris

Pomppholyx

Youthful Facial Appearance

Acrogeria

Dry Lips

Alcohol Intolerance

Clumsiness


Fact:: Based on the experience of people with EDS: They report that they were clumsy as children and some still are today. They always seem to get hurt very easily. Children with EDS illustrated a higher incidence of foot and ankle problems, due to ligamentous laxity. Some common problems reported due to hypermobility; ankle instability, clubfeet, a flat arch, intoeing and outoeing position. It has been said, "That an EDS child could trip over the patterns in a rug." If you notice that a child seems to get hurt (stitches, sprains, breaks, bruises, wide scars (atrophic papyraceous appearance) gaping wounds) more than other children, they should be evaluated by a Geneticist to see if they might have a connective tissue disorder. 

Cysts

Tinnitus

Metenier's Sign

Trendelenburg's Sign

Osgood-Schlatter Disease

 Redundant Skin Folds

Molluscoid Pseudotumors

Subcutaneous Spheroids

Livedo Reticularis

Arterial Rupture

Valvular Heart Disease

Sleep Apnea

Platelet Aggregation Failure

Insensitivity to Local Anaesthetics

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