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.
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.
baratheonpilled
yousharknotpass
turnnoffyourmind
jacobvanloon
romaincrisis
snowghoul
