{"id":3421,"date":"2019-01-30T04:51:52","date_gmt":"2019-01-30T04:51:52","guid":{"rendered":"https:\/\/simplyhealth.io\/?p=3421"},"modified":"2021-05-24T19:27:28","modified_gmt":"2021-05-24T19:27:28","slug":"20-symptoms-and-causes-of-ehlers-danlos-syndrome","status":"publish","type":"post","link":"https:\/\/simplyhealth.io\/20-symptoms-and-causes-of-ehlers-danlos-syndrome\/","title":{"rendered":"20 Symptoms and Causes of Ehlers-Danlos Syndrome"},"content":{"rendered":"\n
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EDS \u2014 short for Ehlers-Danlos syndromes \u2014 describe a group of connective tissue disorders that are most often genetic. The symptoms associated with these disorders could include abnormal scar formation, stretchy skin, and loose joints. <\/p>\n\n\n\n

These symptoms will likely be noticed early in the development of the child and possibly even at birth in some cases. Some complications that could arise as a consequence of the disorder include scoliosis, osteoarthritis, chronic pain, joint dislocations, and aortic dissection. These disorders are caused by a mutation in a specific gene out of over a dozen in the group. <\/p>\n\n\n\n

The gene that is affected will determine which type of EDS develops. There are some cases in which the EDS is caused by a new mutation that occurred early in the developmental process whereas other cases of EDS are inherited in a recessive manner. Whether it\u2019s due to a mutation or inherited, the EDS will lead to defective processing of collagen structures.<\/p>\n\n\n\n

1. Hereditary
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Various varieties of Ehlers-Danlos syndrome<\/a> are associated with genetic causes. Some of these are inherited, passed from the parent to the child. The odds of two parents to mutually pass the altered gene and give birth to a child with the disorder is 25% for each pregnancy. The odds of having the child who is a carrier just like the parents are half with each pregnancy. <\/p>\n\n\n\n

The odds of a child receiving normal genes from both of their parents is 25%. The risk of inheritance does not change by gender and is exactly the same for both females and males. Historically, some parents believed that the disorders were more likely to be passed onto sons than daughters, but modern medicine has since debunked that myth through multiple studies conducted with large sample sizes. <\/p>\n\n\n\n

Children who are born carries like their parents will hold the same odds of passing the gene to their offspring as their parents did.<\/p>\n\n\n\n\n\n\n\n

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2. Overly flexible joints
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One of the characteristics of EDS is overly flexible joints<\/a>. Due to the fact that the connective tissue holding all the joints together is looser, the joints are able to move more freely, often far beyond the usual range of motion. Due to this, joint dislocations and pain are quite common in patients with EDS. <\/p>\n\n\n\n

Humans can only tell how far their joint is supposed to move based on the resistance that it gives when they attempt to bend it one way or the other. Since people with EDS don\u2019t feel much resistance when hyperextending their joints, they are far more likely to dislocate it on accident than those with tighter joints. <\/p>\n\n\n\n

This danger becomes especially prominent in those who participate in martial arts. Patients with EDS who participate in grappling arts such as Judo, BJJ, and Aikido may face frequent joint dislocations due to the looseness of their joints.<\/p>\n\n\n\n\n\n\n\n

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3. Stretchy skin
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Stretchy skin is another common symptom that EDS is characterized. Due to the fact that the connective tissue is weakened, it makes it possible for your skin to be far stretchier than it would be if you didn\u2019t have EDS. It may even be possible to pinch your skin <\/a>and pull it far away from the flesh. <\/p>\n\n\n\n

When you let go, the skin will often snap right back into place. EDS might also cause your skin to feel velvety and rather soft in comparison to normal skin. Some older individuals often think that their loose skin is a result of old age, but, in fact, it\u2019s sometimes caused by EDS and only became more severe as they age. <\/p>\n\n\n\n

Loose skin used to be looked at as a sign of practicing the dark arts and as such, it was common for people to accuse people of EDS of being a witch, particularly during the Salem Witch Trials.<\/p>\n\n\n\n\n\n\n\n

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4. Fragile skin
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Another symptom that EDS causes is fragile skin. Those who suffer from EDS will often see their skin take a significantly long time to heal, even for minor cuts and scrapes. Furthermore, those with EDS will often avoid getting stitches to close a wound as the stitches tend to tear out and scar the tissue<\/a>. <\/p>\n\n\n\n

These scars will often look crinkly and thin. As such, those with EDS often avoid physical activities that have a chance of causing damage to their skin. Some schools have gone so far as to bar those with EDS from competing in extracurricular activities such as soccer and football. <\/p>\n\n\n\n

While most schools do allow people with EDS to compete in such sports, it\u2019s advised that they not as this could cause serious damage to their skin and joints. There are also some professional sports leagues that bar athletes with EDS as \u201ca measure to ensure the health and wellbeing of all players.\u201d<\/p>\n\n\n\n\n\n\n\n

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5. Gastrointestinal issues
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Gastrointestinal issues can also be caused by EDS. These include acid reflux, nausea<\/a>, constipation, diarrhea, bloating, and difficulties when attempting to absorb nutrients. Many people are surprised to hear about these symptoms seeing as EDS primarily affects the joints and skin, but these disorders can affect your organs, bowel movements, and bladder too. <\/p>\n\n\n\n

Some people who have EDS even need a feeding tube. They might also have trouble gaining weight leading to a consistently unhealthy appearance. The gastrointestinal issues that EDS causes often leads to patients who develop eating disorders early in life. After all, it\u2019s not hard to see why someone who has constant diarrhea, constipation, and nausea would lose their appetite. <\/p>\n\n\n\n

The constipation and diarrhea that EDS causes can also lead to issues with the colon later on as the patient is unable to adhere to a natural bowel movement schedule. Frequent diarrhea can also cause dehydration in EDS patients.<\/p>\n\n\n\n\n\n\n\n

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6. Aortic issues
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EDS patients could also suffer from dilatation of their aorta. The aorta<\/a> is the blood vessel that comes right from the heart. Its job is to send oxygenated blood to tissue all around the body. Those who have EDS hold higher odds of having an aortic dissection. The walls of the blood vessels are composed of three separate layers. <\/p>\n\n\n\n

These layers are the adventitia, media, and intima. The term aortic dissection describes the separation between the media, adventitia, and intima. The separation of the three layers can impair the heart\u2019s ability to supply blood to the tissue around the body, as well as to itself. Aortic dissection is categorized as an immediate emergency by the American Heart Association and can even lead to acute heart failure. <\/p>\n\n\n\n

Heart failure is the cause of death for many EDS patients as it is one of the fastest-acting dangers that they may face. As such, many EDS patients avoid straining their hearts.<\/p>\n\n\n\n\n\n\n\n

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7. Skeletal dysmorphology
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Skeletal dysmorphology can affect both the hands and spine<\/a>. The issues that skeletal dysmorphology can cause include short stature, stunted growth, wrinkled skin on the palms, bluish sclera in the eyes, muscle atrophy at the thenar muscles in the base of the thumb, and tapered fingers. <\/p>\n\n\n\n

The result is a heavily mutated aesthetic for the patient with EDS that not only impairs physical function but also social interaction as it will greatly diminish their confidence and make it difficult to find friends. Those with SD will often be homeschooled to avoid ridicule from their classmates. Some patients with SD that is caused by EDS have attempted plastic surgery to correct their birth defects. <\/p>\n\n\n\n

While this has sometimes helped for the wrinkled palms and tapered fingers, it is unable to undo all the defects caused by the disorders. The muscle atrophy caused by SD also increases the odds that the patient with EDS will develop carpal tunnel syndrome later in life, especially if they perform strenuous activities with their hands.<\/p>\n\n\n\n\n\n\n\n

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8. BCS
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BCS is a variant of EDS that affects the eyes. People who have this type of EDS have an increased risk of rupturing their cornea <\/a>after more minor injuries. The patients affected by BCS could have blue sclera in their eyes and may be prone to protrusion, degeneration, or scarring of the cornea. <\/p>\n\n\n\n

Patients who have the BCS variant of EDS will often have poor vision and a high likelihood of losing their vision altogether later in life or following an ocular accident. Patients who have BCS are advised to limit eye strain. From a young age, those who suffer from BCS are often not allowed to watch television or have set limits on the amount of time that they can spend doing so. <\/p>\n\n\n\n

They are also advised to wear sunglasses whenever going out in the soon and to avoid looking at the sun directly, even briefly, as it could cause damage to their sensitive eyes.<\/p>\n\n\n\n\n\n\n\n

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9. Issues with Collagen Production<\/h3>\n\n\n\n

Our body produces a protein called collagen <\/a>which helps keep our skin, hair, nails, and bones healthy. When individuals have a collagen deficiency, they develop skin disorders and bone diseases, such as thin skin and osteoporosis. Affected individuals need to boost their production of this valuable protein to reduce the impact of low collagen production on the body.<\/p>\n\n\n\n

People with EDS may live with low collagen production that struggles to meet the body\u2019s demands. As a result, the skin thins and bruising or cuts take longer to heal.<\/p>\n\n\n\n

Eating collagen-rich foods, such as bone broth, may help elevate collagen production, reducing the symptoms associated with EDS. Bone broth dissolves bones, ligaments, and tissues in water over a slow cooking period to release the collagen. Consuming a cup of steaming hot bone broth in the morning gives your body the collagen it needs to maintain optimal levels of epidermal and skeletal health.
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10. Premature Aging<\/h3>\n\n\n\n

Complications related to EDS include premature aging, where the body starts to undergo accelerated changes to the skin and tissues of vital organs. You may first notice early aging shows up as wrinkles on your face and other areas of the skin, such as the folds in the elbows and the back of the knees. Premature aging can have a tremendous psychological effect on patients, reducing their self-esteem and confidence.<\/p>\n\n\n\n

Other signs of premature aging may include degradation in vision, as well as a reduction in neurotransmitter <\/a>production which affects cognitive function, leaving the affected individual feeling like they have \u201cbrain fog,\u201d a condition where affected individuals struggle to think clearly.<\/p>\n\n\n\n

People with EDS should have their skin and eyes checked at least once every other month to ensure that the effects of the condition are not advancing. Some people with EDS find that they develop cataracts and osteoporosis, as a result of the disorder affecting the health of the eyes and skeletal system.
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11. Varicose Veins<\/h3>\n\n\n\n

This condition describes large, twisted veins in the legs. However, it\u2019s possible for any of them to become varicose<\/a>, but the legs are most at risk due to the increases in blood pressure when standing, walking, or running. <\/p>\n\n\n\n

For most people, varicose veins aren\u2019t a life-threatening condition; they\u2019re more of a cosmetic issue that looks unsightly. Many affected individuals choose to have the veins removed using a surgical procedure. However, others prefer to live with the condition, because it typically presents no pain symptoms.<\/p>\n\n\n\n

However, varicose veins can result in several complications if the condition affects primary veins in the legs. Affected individuals may notice sensations of throbbing pain or heavy legs that hinder movement. Spider veins are a type of varicose vein that\u2019s close to the surface of the skin, producing skin discoloration and are often blue or red in color.<\/p>\n\n\n\n

People living with EDS may notice spider veins start to appear in their legs as EDS advances.
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12. Pneumothorax <\/h3>\n\n\n\n

This condition describes a collapsed lung. A pneumothorax <\/a>occurs when air gets into the space between your chest wall and the lungs. The additional air in the cavity pushes against the lungs, creating pressure that forces a collapse. In most cases, patients only receive a partial collapse, avoiding total failure with medical treatment.<\/p>\n\n\n\n

Pneumothorax is typically caused by blunt force trauma to the chest, such as a blow with a heavy object, or a car seatbelt constricting the chest during a vehicle accident. Lung disease and other contributing illnesses and disorders, such as EDS, may also play a significant role in the development of the condition.<\/p>\n\n\n\n

Most people will notice the signs and symptoms of a collapsed lung, which include shortness of breath and interrupted breathing, along with a sharp pain in the chest. At this stage, most people seek treatment for the condition, reducing the chances of total lung collapse.
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13. Easy Bruising<\/h3>\n\n\n\n

People with EDS may notice they are more susceptible to bruising <\/a>than at other stages in their life when the condition wasn\u2019t a problem. The skin may bruise with even the slightest contact with a solid surface. Bruises tend to be larger and a deeper purple or blue color compared to those sustained by otherwise healthy individuals.<\/p>\n\n\n\n

A bruise occurs when small blood capillaries break underneath the skin. The damaged blood vessels bleed into the surrounding tissues, causing the appearance of dark blotches on the surface of the skin. Individuals with EDS may notice that the bruises stick around for months at a time, and some may never heal at all.<\/p>\n\n\n\n

Bruising is not a life-threatening event, but it\u2019s a tell-tale sign of EDS, especially in younger individuals. Excessive bruising typically only occurs in the later stage of life when the skin thins due to a loss in collagen production. However, people affected by EDS may notice these early-onset aging signs in their early twenties.
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14. Congenital Hip Dislocation<\/h3>\n\n\n\n

CHD occurs in children born with an unstable hip. Medical science is at a loss to explain the cause of this disorder. However, research suggests that CHD is a genetic disorder passed onto children by their parents. EDS may also play a significant role in the development of the condition as well.<\/p>\n\n\n\n

Another name for CHD is, \u201cdevelopmental dysplasia of the hip.\u201d The effects of the condition increase with age as the child grows. Bones wear against cartilage, removing this natural joint lubricating surface. This loss of cartilage <\/a>forces bone degradation and exacerbation of CHD symptoms.<\/p>\n\n\n\n

People living with CHD may find that they experience frequent hip dislocations. Surgery to the affected joint may have limited success, and surgeons may opt to replace the entire joint when the patient\u2019s mobility becomes hindered.<\/p>\n\n\n\n

Individuals suffering from CHD may need support from mobility assistance devices to help them move around without experiencing a dislocation event.
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15. Clubfoot <\/h3>\n\n\n\n

This disorder is another congenital condition associated with EDS, where the baby\u2019s foot may become twisted or out of position at birth. This disorder occurs when the ligaments attaching the bones to muscles are shorter than those found in healthy children. As a result, the foot may curl to one side, forcing the affected individual to walk on the side of their foot.<\/p>\n\n\n\n

The effects of clubfoot range from mild to severe, and it\u2019s a relatively common congenital disability. While clubfoot may not present any life-threatening symptoms, it may be a sign of other more severe health disorders, such as EDS.<\/p>\n\n\n\n

Clubfoot <\/a>may affect one or both feet, making it very challenging for small children to learn how to walk. As a result, many kids with clubfoot end up developing a hip imbalance or structural issue with the spine due to their lack of mobility and poor walking posture. Doctors can treat some cases of clubfoot after birth, and have some success at returning the baby\u2019s foot to the normal position.
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16. Receding Gums<\/h3>\n\n\n\n

Poor oral health<\/a> is the hallmark of gum disease. People who fail to take care of their teeth and gums may notice that their gum line starts to recede, exposing the lower area of the tooth, increasing the size of the gap where the gums meet the teeth. <\/p>\n\n\n\n

However, a receding gum line may also be a sign of other more severe health disorders, especially in people that do take care of their teeth. EDS can affect the gum line, causing it to recede, as the inflammatory particles produced by the disorder begin to affect gum tissues. <\/p>\n\n\n\n

People with EDS may suffer from inherited factors that cause the early recession of the gum line. These genetic factors include overlapping teeth, gum thickness, and a small jaw. EDS can affect the health of gum tissue, thinning it out while reducing the height of the gum line. <\/p>\n\n\n\n

People living with EDS and experiencing gum line recession should pay extra careful attention to their oral health.
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17. Under or Overdevelopment of the Earlobes<\/h3>\n\n\n\n

EDS can accompany other hereditary conditions, such as CHD and clubfoot, as well as over or under-sized earlobes. It might surprise you to learn that your earlobes say a lot about your genetics <\/a>and general health. Doctors use the ears as a measurement of heart health, as well as a tell-tale indicator of other genetic disorders, such as EDS.<\/p>\n\n\n\n

The condition is hereditary, and people living with the disorder will not notice any adverse health conditions arise as a result of under or over-sized ears. However, affected individuals should consider undergoing genetic testing to discover any hidden congenital disorders overlooked when they were a child.<\/p>\n\n\n\n

In most cases, EDS patients will notice abnormalities in their ear, with the lobe appearing unusually large. Doctors may be able to treat the disorder with cosmetic surgery, if necessary. However, many people living with the condition choose not to do anything about it, as it presents no physical pain symptoms or discomfort.
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18. Septate Uterus<\/h3>\n\n\n\n

This condition may also accompany EDS in affected individuals. A septate uterus is a hereditary <\/a>condition that occurs to the developing fetus in the womb. Individuals diagnosed with septate uterus experience a deformation to the septum, the wall that divides the inner segment of the uterus. This condition occurs before birth, and if not identified, the child will experience birthing complications in later life.<\/p>\n\n\n\n

Women with a septate uterus experience the growth of fibrous tissue, called a septum, that divides the uterus in half. Affected individuals run a much higher risk of miscarriage, as the womb cannot support the adequate growth of the fetus. Doctors treat this condition using surgery to remove the septum and repair the uterus. Patients who undergo surgery to clear the septum may significantly improve their pregnancy outcome.<\/p>\n\n\n\n

While a septate uterus is a separate condition to EDS, it may be a warning sign that other genetic abnormalities are present in the patient. Doctors should run tests to check for any other underlying conditions that remain undiagnosed.
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19. Bicornuate Uterus<\/h3>\n\n\n\n

A bicornuate uterus is another genetic abnormality affecting the reproductive health of women. This disorder is often confused with septate uterus, and doctors identify a bicornuate uterus using ultrasound <\/a>methods.<\/p>\n\n\n\n

Uterine abnormalities are relatively uncommon, and as a result, they should be a warning sign for the potential of other genetic disorders in the affected individuals. People who experience a bicornuate uterus should undergo testing for other severe health disorders, such as EDS.<\/p>\n\n\n\n

Around 3-percent of women have uterine abnormalities at birth, and a bicornuate uterus is one of the most common uterine disorders found in women with genetic defects. Symptoms associated with a bicornuate uterus include irregular vaginal bleeding, known as \u201cspotting,\u201d as well as painful periods, miscarriages, abdominal discomfort, and pain during intercourse.<\/p>\n\n\n\n

Women affected by a bicornuate uterus may not pay attention to symptoms and signs of the condition because they have had the disorder since birth \u2013 making them think that the symptoms are part and parcel of normal reproductive function.  
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20. Pregnancy Complications<\/h3>\n\n\n\n

Women with genetic abnormalities affecting their reproductive system, specifically the uterus, may have a tough time falling pregnant. For those affected individuals that do end up pregnant<\/a>, they run the risk of experiencing a miscarriage due to defects in the reproductive system and the womb. <\/p>\n\n\n\n

EDS affects the health of the skin and tissues in the body, and in women, it may result in genetic changes to the structure and function of the uterus. As a result, many expectant mothers suffering from EDS may undergo pregnancy complications such as miscarriages, premature birth, and other congenital disabilities, such as clubfoot. <\/p>\n\n\n\n

If you have recently fallen pregnant, it’s vital that you visit your doctor for testing as soon as possible. Your doctor will draw blood samples to check for any aberrations in your bloodwork. The physician will also scan your uterus with an ultrasound device to check on the health of your womb.
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