Fact #29: EDS can also be accompanied by blood disorders such as clotting and platelet abnormalities. Skin that is easily bruised occurs in all types of EDS to varying degrees and is essentially caused by the fragility of the body’s capillaries.
Fact #30: Connective tissue can surprisingly also be found in the bones and blood as well as being the glue that holds the body together inside and out. Collagen alone is found in tendons, ligaments, skin, the cornea, cartilage, bone, blood vessels, the gut, and intervertebral discs. All of this helps explain the endless possible complications and outcomes of EDS.
Fact #31: To learn more about EDS you can visit the Ehlers-Danlos National Foundation’s website
Fact #26: It is recommended that people with EDS do not play competitive or contact sports due to the increased risk of injury, as well as the pressure they put on the fragile bones, joints and arteries.
Fact #27: Women with EDS can become pregnant, but should first consult with a cardiologist and high risk obstetrician to make sure that it’s safe. A conversation with a genetic counselor to understand how EDS is inherited is also recommended.
Fact #28: EDS can affect endless parts of the body, but has “variable expression,” so each person is affected differently, even within the same family. While there are features that are frequently seen in many people with the disorder not all people will exhibit these features.
Fact #22: Those with EDS (especially the vascular type) are at an increased risk of arterial rupture (such as aortic dissection) which if not promptly diagnosed and treated can lead to death. If you have or suspect EDS and experience sudden pain in your chest, back, shoulders or jaw (often described as severe and ripping in nature) it is extremely important to seek emergency medical attention. Be sure to divulge your diagnosis and insist that the proper imaging tests be performed – such as an MRI, transesophageal echocardiogram or CT (X-rays and EKGs will not be able to rule out the possibility of arterial rupture or dissection). Do not allow yourself to be dismissed before the possibility of those complications is definitively ruled out.
Fact #23: Raising EDS awareness is extremely important in order to help those with the disorder receive early diagnosis and with it proper management and treatment.
Fact #24: EDS carries many of the same and/or similar symptoms of several other genetic connective tissue disorders such as Marfan Syndrome and Loey-Dietz Syndrome. It is not uncommon to have what appears to be a mix of more than one tissue disorder or for your diagnosis to change later in life from one to the other as more symptoms appear and more is learned about these conditions. This is another reason close monitoring is important.
Fact #25: The mascot/symbol of EDS has become a zebra or zebra stripes. The reason behind this is because EDS is what’s considered a “zebra diagnosis” aka a surprise, rare diagnosis. This is based on the saying “when you hear hoofbeats behind you, don’t expect to see a zebra” because the more likely and logical explanation would be that they belong to a horse.
(You’ve probably noticed that I started grouping up the EDS facts instead of doing them once a day – this is because many of them make more sense together, when read one after the other.)
Fact #18: Possible dental manifestations of EDS include a high palate, crowded teeth, gum disease and hypermobile tongue. Those with EDS are also more prone to cavities as well as weakness of both the enamel and tooth roots.
Fact #19: EDS can cause chronic debilitating pain throughout the entire body. Whether from chronic, repeated joint subluxations and dislocations or degenerative joint disease, this is often easily the most difficult aspect of daily life with EDS.
Fact #20: EDS can cause several gastrointestinal complications, one of the more serious being gastroparesis meaning: partial paralysis of the stomach causing food to remain in the stomach for longer than normal or preventing the stomach from emptying entirely.
Fact #21: When EDS is suspected it’s important to be thouroughly evaluated by a team of specialists such as an opthalmologist, geneticist, orthopedist and most importantly a cardiologist. It’s also important that those specialists be familiar and knowledgeable of connective tissue disorders such as EDS.
This episode of Mystery Diagnosis featurs a girl with EDS!! It was positively fascinating and eye opening, even for me and I’ve lived and heard some pretty crazy medical stories! It’s heartbreaking how much this young girl had to go through before getting answers. So much of this story sounds so eerily familiar.
#14: Though genetic testing is available even if the results are negative it cannot rule out the possibilty of EDS. This is because not all of the disorder causing mutations and variants have been identified, meaning that just because you don’t have a mutation known to be associated with EDS doesn’t mean you don’t have one that is as of yet undiscovered. This is why physical examination and clinical presentation is so important.
#15: There is no cure for EDS. Treatment is merely supportive and includes continual, close monitoring of the neccesary body systems and treating individual symptoms as they present whenever possible. Physiotherapy, occupational therapy, and orthopedic instruments can also prove helpful.
#16: Surgery is often needed in order to stabilize extremely loose joints and help prevent them from subluxating and dislocating. Because of the known fragility of the tissue in EDS as well as the poor, slow and sometimes incomplete wound healing the pros and cons of such procedures must be thoroughly measured. It’s also very important to have a surgeon who is knowledgeable of EDS and the different steps that should and can be taken to help ensure the best possible outcome and prevent further tissue damage.
#17: Currently EDS is estimated to occur in 1 out of every 5000 births worldwide, equally effecting men and women of every race and ethnicity.
Fact #10: In many cases those with EDS do not respond to local anaesthetic properly or at all. This may mean complete failure of the anaesthetic to freeze the intended area, a much lower amount of numbness, or a much shorter duration of effect. (I am one of those people and this can result in some fairly traumatizing medical procedures – especially when doctors won’t take your word for it).
Fact #11: Possible cardiovascular manifestations of EDS include valvular heart disease (such as valvular incompetance) as well as artery dilation (the weakening of the walls of certain arteries, and/or veins, more commonly associated with certain types of EDS). For those at risk an annual echocardiogram is recommended in order to monitor the heart and aorta and to help prevent more serious complications by early intervention if needed.
Fact #12: EDS is an autosomal dominant genetic disorder (apart from types 6 and 7C) meaning if a parent has the disorder they have a 50/50 percent chance of passing it onto each child they have. Not everyone with EDS has inherited the disorder from a parent though. It is estimated that about half of those with EDS received it via what’s known as “spontanues mutation”. This is when the eds causing gene becomes mutated all on it’s own. But, once the gene mutation is in the family from then on it carries the 50/50 chance of being passed on. The gene can only be inherited from a parent, it does not skip generations.
Fact #13: EDS widely varies in severity and the onset of symptoms is often gradual. Oftentimes a diagnosis is only made when after many years of unexplained symptoms there become enough to connect the dots back to the disorder. Because of the limited awareness of the disorder among doctors the road to diagnosis can be agonizingly slow and frustrating. The link between symptoms can often go unrecognized entirely.
Sorry for the lack of EDS facts! I’ve had a strange few days topped off with a horrible headache and the nausea that comes with it. I went to lay down at about 11:30 am yesterday after only being up for a few hours and ended up not being able to get up until 6:00 am this morning! I’ve been feeling pretty awful, even for me. I wish I could say I feel rested after all that sleep but I definitely don’t!
Fact #6: EDS can also be associated with rare and/or serious conditions such as tethered cord, cervical cranial instability, cranial settling, dural ectasia and chiari malformation. It’s important to be evaluated for these conditions if you have EDS and begin experiencing unexplained or new neurological symptoms. It’s also important to make sure the radiologist reading your imaging results is aware of your disorder and these generally rare manifestations, so that they don’t misinterpret them or miss them altogether.
Fact #7: The many potential ocular manifestations of EDS can include: high myopia, cataracts, lens subluxation, glaucoma, retinal detachments, photophobia and macular degeneration.
Fact #8: Postural Orthostatic Tachycardia Syndrome is a common and potentially debilitating symptom of EDS caused by an abnormally large increase in heart rate upon moving from a sitting or laying position to a standing one. This is often accompanied by a fall in blood pressure and decrease in blood flow to the brain. Severe cases of POTS can potentially incapacitate those who suffer from it preventing them from attending school or work and/or leading a normal life.
Fact #9: Because of the unpredictable nature of connective tissue disorders like EDS, and the enormous array of possible symptoms they can cause, it’s recommended that individuals with positive or suspected diagnosis of them receive ongoing, long-term medical care – preferably by specialists knowledgeable of the unique and possible complications they may cause.
EDS fact #5 (info provided by the EDNF): Clinical manifestations of EDS are most often joint and skin related and may include: joint hypermobility; loose/unstable joints prone to dislocations and/or subluxations; joint pain; early onset of osteoarthritis, fragile skin that tears or bruises easily, slow and poor wound healing and much more.
In honor of Ehlers-Danlos Syndrome awareness month, here’s EDS fact #4 (info provided by the EDNF): Each type of EDS is a distinct disorder that “runs true” in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS.