Sunday, May 15, 2016

If You Have Ehlers Danlos Syndrome You Will Totally Get It, If You Don't Have EDS Check Out This Article To See If You Can Find An Answer To Your Chronic Illness Here.



Blogging Blogging Blogging! How important it is and how much I'm preaching to myself here. I need to be more disciplined about sending out information on Ehlers Danlos Syndrome so that others may find people in their lives, or themselves, or maybe even medical professionals may find some of their patients in these pages. Well, that is a big goal that I have set for myself since I hardly ever feel liking blogging. I don't like to blog when I don't feel well because I know I won't be at my best but, thank goodness there are others with EDS that blog as well. Together we all share the need to send a bright shining light into the medical community that EDS is alive and well and missed when all of the MANY illness that it causes shows up in the offices of doctors.

I ran across a blog post from http://chronicillnessproblems.tumblr.com/post/87429414675/thinking-you-might-have-ehlers-danlos-syndrome who had a great article about what EDS looks like.

Here is a list of some signs of EDS and some of the things that EDS causes in the EDS patient. I'm going to highlight the ones that I deal with just so you can see some of what I deal with on a daily basis. This is not a complete list by any means but hopefully it will give you the reality of why finding out information about EDS is so important for those who suffer with it.

 Other signs of Ehlers-Danlos include:
-Easily visible veins, especially on thighs, chest, or abdomen.
-“Transluscent” skin that can be described as especially soft, or “velvety.”
-Skin that bruises easily
-Blue sclera - that is when the whites of your eyes have a blue tent to them.   Yes, these are my eyes...... They are blue sometimes and green at other times. You can see the blue sclera in the eye on the left side of the picture, just in the outer edge.



The two pictures below I know are gross looking, I was feeling bad this day so the blood vessels in my eyes were bright red which I have noticed happens when I don't feel well. The blue sclera can be clearly seen when I turn my eyes all the way to the outside of my eye socket.  Here is the right eye                                   and here is the left eye. 









-Antimongoloid slant - this is a downward slanting of outside corner of the eyes.   My eyes are almost half moon shaped. 

-Pectus Excavatum - also known as sunken or funnel chest
-Flat feet
-Scoliosis (congenital or developed) - for now mine is mild in my lower back
-Marfanoid Habitus- a constellation of symptoms resembling those of Marfan syndrome, including long limbs, with an arm span that exceeds the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly - condition in which the fingers and toes are abnormally long and slender, in comparison to the palm , and hyperlaxity- In such conditions as Ehlers Danlos or Marfan's syndrome, the connective tissue, which is the basic building block for ligaments, joint capsule and tendons, is abnormal.
-Mitral Valve Prolapse (though the especial frequency of this in EDS has been disputed in recent literature)
-Myopia - A condition in which close objects appear clearly, but far ones don't.This is not just a condition of getting older, and at times for me I can't see anything close up or far away without it all being very blurry.
-Abnormal orthodontics (severe overcrowding, losing baby teeth at late age.)
-Temporomandibular Joint Disorder
-Loss of proprioception - The unconscious perception of movement and spatial orientation arising from stimuli within the body itself. In humans, these stimuli are detected by nerves within the body itself, as well as by the semicircular canals of the inner ear. The American Heritage® Science Dictionary.  This one is tough for me because I am always running into things and misjudging where my arms and legs are and when I am standing up I have trouble knowing where my feet are on the floor. I often just kind of tip over or stumble as I walk and stand. I've gotten really good at catching myself from falling. 

Conditions that Frequently Co-exist or are caused by Ehlers Danlos:
Adrenal Insufficiency - a condition in which the adrenal glands do not produce adequate amounts of steroid hormones, primarily cortisol
Anxiety Disorders and Panic Attacks (result of Dysautonomia and the dysfunction of the para/sympathetic nervous system, and/or Adrenal Insufficiency)
Autoimmune Disorders (Esp. Thyroid related)
Arthritis
Carpal Tunnel Syndrome

Celiac Disease
Chiari Malformation -A condition in which brain tissue extends into the spinal canal that can cause problems with balance and coordination. It happens in people with EDS because the fluid from the brain doesn't drain properly so there is extra pressure on the brain forcing it downward so that the cerebellum rests on the spinal column. Chiari can happen in people without a visual sign of the cerebellum resting on the spinal column which is called Chiari Zero.
Chronic Cerebrospinal Venous Insufficiency - a condition where people have obstructed blood flow in the veins that drain the central nervous system (the brain and spinal cord). This can cause Chiari in EDS patients. Research indicates that CCSVI is significantly correlated with multiple sclerosis. As a result of these venous abnormalities, the blood flow rate through the central nervous system back toward the heart may become slowed, and blood may reflux back toward the brain and spine.
Chronic Fatigue (and Immune Deficiency) Syndrome
Chronic regional pain syndrome
Chron’s disease
Craniocervical Instability or Craniovertebral instability
Dysatuonimia - a malfunction of the Autonomic Nervous System
Early onset herniated disks or spinal degeneration
Fibromyalgia Syndrome
Fixed dystonia - abnormal posture even at rest
Gastroparesis (delayed gastric emptying)
Headache associated with cerebrospinal fluid leakage
Heart Murmur
Hiatus hernia
Immunological Deficiencies
Insufficient REM sleep (related to insomnia, breathing difficulties, etc.)
Irratible Bowel Syndrome

Kyphosis- especially of cervical Spine
Mast Cell Activation Syndrome - a condition with signs and symptoms involving the skin, gastrointestinal, cardiovascular, respiratory, and neurologic systems. Earlier proposed criteria for the diagnosis of MCAS included episodic symptoms consistent with mast cell mediator release affecting two or more organ systems with urticaria, angioedema, flushing, nausea, vomiting, diarrhea, abdominal cramping, hypotensive syncope or near syncope, tachycardia, wheezing, conjunctival injection, pruritus, and nasal stuffiness. This is kind of like being allergic to anything and everything but not everytime nor do you know when that time may be or not. 
Mitral Valve Prolapse
Multiple Sclerosis - highly suspected but not yet confirmed for me. 
Osteoporosis (or osteopenia)
Postural Orthostatic Tachycardia Syndrome (POTS)- 
a condition in which a change from the supine position to an upright position causes an abnormally large increase in heart rate, called tachycardia. Other symptoms of an orthostatic nature — occurring in response to upright posture — may accompany the tachycardia. EDS patients, or at least how it was explained to me about myself, do not retain fluid they take in. I was told that the cells in my body, because of the EDS are the wrong shape to hold in salt which causes me to not retain fluid so therefore, I am always dehydrated and I will always be dehydrated no matter how much water I drink. I have ended the week of getting IV's and ended up in the ER and tested for dehydration and was show to be dehydrated. It happens everytime I get my blood checked. The saline IV's help me feel a little better for about 24-36 hours but after that I feel myself sinking so to speak and my mood changes, not for the better and I become more dizzy and tired. Patients with POTS are known to have up to 20% less blood volume than the normal person causing the heart to overwork to compensate. POTS is very tiring to the body and is compared to using as much energy as it would take to run on a treadmill 24 hours a day 7 days a week non-stop or like someone who has congestive heart failure. For the EDS patient once you have POTS you will have it for life. There is no cure for POTS although there are some instances a person can develop POTS and then they will cease to have it. The only help for POTS is to try and control the symptoms, which you never know when they will hit, with saline IV's and certain heart medications that may slow the symptoms. I spend 18 hrs a week at the hospital getting saline IV's to help my heart not have to work so hard which below you will read about my heart and how important that is for me. Saline IV's are also said to help support patients with Mast Cell Activation Disorder.
Scoliosis, usually congenital
Temporomandibular Joint Disorder
Tendinitis

Tethered Cord Syndrome
Vitamin Deficiencies (malabsorption) (Esp. B, and D)  

These were not on the list that I found on the blog post below but I included them because the are all caused from EDS. The heart stuff gets pretty scary if you ask me.
Arterial Fibrillation
PFO grade III - A patent foramen ovale (PFO) is a persistent, usually flap-like opening
Tricuspid Regurgitation - a disorder in which the heart's tricuspidvalve does not close properly, causing blood to flow backward (leak) into the right upper heart chamber (atrium) when the right lower heart chamber (ventricle) contracts
Mitral Regurgitation-leakage of blood backward through the mitral valve each time the left ventricle contracts. A leaking mitral valve allows blood to flow in two directions during the contraction.
ASD -Atrial Septal Defect - a hole in the heart
ASA - Atrial Septal Aneurysm - a rare but well recognized and localized saccular deformity of the atrial septum that bulges into the right or left atrium with uncertain clinical significance.

This sounds like a lot doesn't it? Well, ask anyone with Ehlers Danlos and they will tell you that this just scratches the surface. Having so many things wrong with our bodies is because this is a collagen disorder and since the human body is made up of about 80% collagen, when you make faulty collagen it messes with every single system of the human body. Another reason that I blog about EDS is because I want my friends to understand that when I say I don't feel good, I don't mean that I'm a little tired or that my stomach hurts, I mean at least 90% of my body doesn't feel good at any given moment. 

There are some great facts and info in the blog chronicilnessproblems and you can look for yourself there or someone you may know who seems to be chronically ill but yet never finds an answer to what is causing the problems.

Giving all the credit to Chronicilnessproblems here is the blog post copied and pasted here.

Thinking You Might Have Ehlers-Danlos Syndrome?

Unlike many heritable connective tissue disorders (HCTD,) there isn’t a genetic test for most types of EDS. There is a test for Vascular type, but it isn’t 100% accurate, and there is a test for Classic, but it’s only about 50% accurate. So the diagnosis for Ehlers-Danlos Syndrome is generally made by the Beighton, Brigton, and sometimes the Villefranches criteria, and by history and family history questioning done by a geneticist.

Decades ago, Ehlers-Danlos was estimated to affect 1 in 10,000 people, for the most common type. Now, it is estimated that Ehlers-Danlos Hypermobility Type is at least twice that common, and that still three-quarters of cases go undiagnosed, due to poor education and awareness about the Syndrome. Many doctors who do diagnose EDS fail to recognize the less common types, and some with the other types are misdiagnosed as Hypermobility type.

Beighton and Brighton Criteria for EDS Hypermobility Type:




The Beighton Scale:
The Beighton scale is scored from 1-9, and measures hypermobility. As is pictured, you get one point for each: pinky that can bend back past 90 degrees, each thumb that can touch your wrist, each elbow that bends backwards, knee that bends backwards, and one point if you can press the palms of your hands to the floor without bending your knees.
(0-2 points = not significantly hypermobile, 3-4 points = moderately hypermobile, 5-9 points = distinctly hypermobile)
A score of 4 is generally considered hypermobile in practice. Many people can do one to a few of these, which isn’t abnormal, but 4 will be classified as hypermobile.

The Brighton criteria:
Major Criteria-
-A Beighton score of 4/9 or greater (either currently or historically.)
-Arthralgia (joint pain) for longer than 3 months in 4 or more joints.

Minor Criteria-
-A Beighton score of 1, 2 or 3. (0, 1, 2, or 3 if aged 50+)
-Arthralgia for more than three months in one to three joints or back pain for more than three months, and/or spondylosis/spondylolysis/spondylolisthesis
-Dislocation or subluxation in more than one joint, or in one joint more than once
-soft tissue rheumatism. greater than 3 soft tissue lesions (bursitis, etc.)
-Marfanoid habitus (tall, slim, span/height ratio >1.03, upper: lower segment ratio less than 0.89, arachnodactyly (positive Steinberg/wrist signs)
-Abnormal skin, striae, hyper extensibility, thin skin, papyraceous scarring.
-Eye signs: drooping eyelids or myopia or antimongoloid slant
-Varicose veins or hernia or uterine/rectal prolapse

Ehlers-Danlos (or Joint Hypermobility Syndrome) is diagnosed in the presence of:
-Two major criteria OR
-One major and two minor criteria OR
-Four minor criteria OR
-Two minor criteria IF a first-degree relative is unequivocally affected

This is what doctors and researchers use to classify Ehlers-Danlos Syndrome. They will also, especially in types other than Type 3- Hypermobility type, look at family history of hypermobility of sudden death due to organ or vessel rupture, at scoliosis, presence of skin fragility or elastic skin, organ fragility, or related conditions.

The Beighton and Brighton generally are used to diagnose the Hypermobility type, and in 1997, a group of experts met in Villefranche and developed the Villefranche criteria. This criteria also includes important aspects for the other types of Ehlers Danlos.

(x)
(x)


Other signs of Ehlers-Danlos include:
-Easily visible veins, especially on thighs, chest, or abdomen.
-“Transluscent” skin that can be described as especially soft, or “velvety.”
-Skin that bruises easily
-Blue sclera
-Antimongoloid slant
-Pectus Excavatum
-Flat feet
-Scoliosis (congenital or developed)
-Marfanoid Habitus
-Mitral Valve Prolapse (though the especial frequency of this in EDS has been disputed in recent literature)
-Myopia
-Abnormal orthodontics (severe overcrowding, losing baby teeth at late age.)
-Temporomandibular Joint Disorder
-Loss of proprioception

Conditions that Frequently Co-exist or are caused by Ehlers Danlos:
Adrenal Insufficiency
Anxiety Disorders and Panic Attacks (result of Dysautonomia and the dysfunction of the para/sympathetic nervous system, and/or Adrenal Insufficiency)
Autoimmune Disorders (Esp. Thyroid related)
Arthritis
Carpal Tunnel Syndrome
Celiac Disease
Chiari Malformation
Chronic Cerebrospinal Venous Insufficiency
Chronic Fatigue (and Immune Deficiency) Syndrome
Chronic regional pain syndrome
Chron’s disease
Craniocervical Instability or Craniovertebral instability
Dysatuonimia
Early onset herniated disks or spinal degeneration
Fibromyalgia Syndrome
Fixed dystonia
Gastroparesis (delayed gastric emptying)
Headache associated with cerebrospinal fluid leakage
Heart Murmur
Hiatus hernia
Immunological Deficiencies
Insufficient REM sleep (related to insomnia, breathing difficulties, etc.)
Irratible Bowel Syndrome
Kyphosis- especially of cervical Spine
Mast Cell Activation Syndrome
Mitral Valve Prolapse
Multiple Sclerosis
Osteoporosis (or osteopenia)
Postural Orthostatic Tachycardia Syndrome
Scoliosis, usually congenital
Temporomandibular Joint Disorder
Tendinitis
Tethered Cord Syndrome
Vitamin Deficiencies (malabsorption) (Esp. B, and D)


If these criteria fit you, you may have Ehlers-Danlos Syndrome. Even if you’re close to the criteria and seeking a diagnosis, or if you have a family history of similar issues, it’s definitely worth looking into and being evaluated by a geneticist, because if not EDS, there are similar HCTDs. Geneticists are generally the best doctors to see for EDS, but rheumatologists can also be experienced in treating and diagnosing Ehlers-Danlos.

The Ehlers-Danlos National Foundation- EDNF- has a list of specialists by area here.
The biggest names are Dr. Clair Francomano and Dr. Brad Tinkle, and also in the Maryland area the Johns Hopkins doctors are good- Dr. Howard Levy is great, and Dr. Dietz is also good, especially for Vascular type, though his specialty is other HCTD, (Like the one he helped name, Loyez-Dietz Syndrome.)
Even a doctor who isn’t considered an “expert” can help diagnose Ehlers-Danlos and start the treatment process, but always be sure to do your own research and don’t believe everything a single doctor says.
(For example that EDS is “just a label” or that EDS “can’t really be treated anyway.”)

Research can be found through EDNF, NCBI Pubmed Studies (and other scientific websites like Journal of the American Osteopathic Assiciation,) and Pretty Ill, and any medical websites. Ones aimed at medical students or published medical studies and journals are better for information than discussion boards, but discussion boards can be helpful in their way, especially for psychosocial type support from the more positive ones.

Lastly, there is the question over differences between EDS Hypermobility type, Joint Hypermobility Syndrome, and Benign Joint Hypermobility Syndrome.
Benign JHS versus non-benign JHS is basically just asymptomatic (benign) versus Symptomatic. The only diagnostic criteria for Benign Hypermobility Syndrome is the Beighton Score of 4 or higher, but without any joint pain (arthralgia.)
There is much recent debate in literature and research over whether there is a difference in EDS Hypermobility Type (HT) and JHS. Some say that they are the same illness, since they are often seen in the same family (one member will be diagnosed with JHS and another with EDS,) indicating that the genotype for EDS HT and JHS is the same and hereditary. Others dispute this, saying that JHS is simply the joint hypermobility due to looser joints, and that JHS does not present with the same symptoms as EDS HT, such as skin involvement, appearance (translucent skin, blue sclera, high palate, pectus excavatum, etc.,) or the other systematic involvement that is frequently present in EDS like the autonomic dysfunction, gastroparesis, etc. This is frequently disputed, and likely will be until we discover the genes behind EDS HT and behind JHS, and are able to tell whether or not they are the same illness with a wide range of presentation, or different illnesses altogether.

5 comments:

  1. Hi!
    I am so blessed to have found you...and a fellow believer at that!!!
    I have many unanswered questions about EDS HT maybe you can help me with. I also have many unawsered questions about what is happening in my body....it's been a lifelong journey that has become a nightmare.
    Would you be willing to hear my story? Maybe you can give me some answers and dirction?
    Your blog was great and informative! Thank you for sharing it.

    ReplyDelete
    Replies
    1. Hi! I'm sorry that it has taken me so long to get back with you. I forget to check my comments. I'm glad that I found you and that we do share our Love for God. Please contact me and I'll be happy to answer any questions that you have and if I don't have an answer I'll find someone who will have the answer. I encourage you to go on facebook and look for EDS support groups. There are so many of them. Plase find me at the following places and ask me anything you want. Be sure to let me know that you found me through my blog so I'll know it's you. Thanks!!!

      https://www.facebook.com/LibertyEDSdog/

      https://www.instagram.com/liberty_the_ehlers_danlos_dog/

      www.thelibertyofitall.com

      https://www.facebook.com/ymadeehosp

      Delete
  2. Thank you for your blog post..very thorough assessment of EDS. I am 62 and have lived with EDS my whole life...always thought something wasn't quite right about my body/mind and searched for the answers for most of my adult life and finally last Dec./2017 I was diagnosed with EDS Hypermobility type. It was a relief to finally know what the causal factors are which helped shift my attention to doing what I can to live with greater ease, acceptance of what is while being proactive, and gratitude, which are all a tall order some days. ha! I experience most of the symptoms/issues you have listed here. Did you mean tinnitus or tendonitis, or both? I have tinnitus...seems to go along with the adrenal insufficiency. I am noticing my symptoms and fatigue, and inability to absorb nutrients/supplements like Vit. D and B vitamins (I use Methylated Folate, B-12 and another B), and oils, are growing worse as I age. Well, here's to the good fight....thanks again for all the good info/resources. All the best!

    ReplyDelete
    Replies
    1. Hi! Thank you so much for the kind words about the post. I always say that if I had to get a weird disorder at least it's one that no one knows much about so that I get to research it. I mean, how boring would it be to get some ole thing that everyone knows about.... I'm only kind of kidding. I'm sure you felt as I did that I was validated after having finding out about having EDS. Doesn't it answer so many question and explain so many things? I'm glad you are able to find my blog. There's lots of good info here. I'm in the midst of cleaning it up and adding more articles. I have tons of brain fog so I'm working through that. I do have both tinnitus and tendonitis but tinnitus was not on the list. I wanted to mention to you and EDS causing vitamin D deficiency. The EDS body is unable to absorb it so it will always be low when checked. Vitamin B-12 is another one that EDS patients are always low on. I think that Methylate problems are common in EDS but of course I can't prove that. As you know or are figuring out that EDS is progressive. My best advice is to rest when you need to rest even if you've always pushed through before. Rest is your friend!!! Hoping all the best for you and please come back and visit the blog again.

      Delete