Presentation
Among the 23 subjects with limited workup, 5 (21.74%) presented with a rheumatological disease (psoriasis, RA, PMR). [acrabstracts.org]
In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3). [dovepress.com]
Criteria 2 : Two or more of the following features must be present (A&B, A&C, B&C, or A&B&C): Feature A —systemic manifestations of a more generalized connective tissue disorder (a total of 5 out of 12 must be present) 1. [rarediseases.info.nih.gov]
These different gene interruptions (mutations) may cause a similar presentation of symptoms. [edswellness.org]
Patients with joint hypermobility syndrome/Ehlers-Danlos-hypermobility type present with multi-systemic complaints that are strongly associated with several maladaptive processes. [rheumatologyadvisor.com]
Entire Body System
- Weakness
The JHS/EDS-HT phenotype generally consists of widespread arthralgia, joint dislocations, soft tissue injuries, deconditioning, muscle weakness, decreased exercise tolerance, proprioceptive deficits, and difficulties with motor skills. [rheumatologyadvisor.com]
Ehlers-Danlos syndromes are a group of disorders which share common features including easy bruising, joint hypermobility (loose joints), skin that stretches easily (skin hyperelasticity or laxity), and weakness of tissues. [medicinenet.com]
This is when babies are born with weak muscles and bones. They often have unusually long limbs or fingers and a curved spine that gets worse as they grow. [webmd.com]
This can also result in weakness in the spinal cord and skull, which can produce injury to the brain and central nervous system. Often, this damage is so severe that it requires dangerous invasive surgery. [massroots.com]
There may be muscle weakness or low tone (hypotonia) perhaps manifesting in childhood as a delay in development of motor skills (e.g., holding head up, crawling, walking). [hypermobility.org]
- Disability
Qualifying for Disability Benefits for Ehlers-Danlos There are two ways that individuals can qualify for disability benefits: meeting a disability listing or proving you are unable to work. [disabilitysecrets.com]
High Yield Data Summary Clinical presentation and disabilities in children diagnosed with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type are highly variable and have distinct trajectories. [rheumatologyadvisor.com]
Chronic pain, distinct from that associated with acute dislocations, is a serious complication of the condition and can be both physically and psychologically disabling. [ncbi.nlm.nih.gov]
It is a group of genetic disorders that are actually NOT rare - only rare to be properly diagnosed by a Having an invisible disability is like being in an abusive relationship. Your body physically abuses you. [pinterest.co.uk]
Again, the severity and extent of the resulting disability depends on the level and duration of exposure. [mthfrheds.com]
- Falling
Ehlers-Danlos Syndrome Self Care For people who have Ehlers-Danlos syndrome, it's important not only to follow the prescribed treatment plan, but also to practice good self care to protect the skin and joints by avoiding injuries and falls, cleansing [arthritis.org]
Most children with EDS must be extremely careful and must avoid falling or hurting themselves. This can lead to a very sheltered life. These symptoms are amongst the mildest of symptoms. [ehlersdanlossyndrome.org]
There are thirteen defined types of Ehlers-Danlos syndrome, as well as a number of mutations identified as Ehlers-Danlos syndrome that fall outside the current system. [ehlers-danlos.com]
It is possible many different measurements could be used that focus on balance, gait speed, cadence, dual-task activities, quality of life, and fear of falling. [physio-pedia.com]
[…] headaches Mildly stretchy skin that appears normal after being released Smooth, velvety skin Fragile skin that may scar abnormally and/or easy bruising Fragile blood vessels (especially capillaries) that are prone to rupturing Poor balance and/or fear of falling [forgottendiseases.org]
- Surgical Procedure
procedures, since wound healing may be compromised If surgery becomes necessary, then taking precautions against bleeding before, during, and after the procedure or surgery Proper counseling and medical care for women before and during pregnancy, as [dovemed.com]
Surgical procedures have been used to improve skeletal stability and improve quality of life; for examples and reviews, see references 2-4. The EDS syndromes as a group also have a classification system. [forgottendiseases.org]
Although surgical procedures are invasive, they seem to be the only proven treatment to be effective. [f1000research.com]
This form of skin infection is difficult to treat with antibiotics alone and typically requires a surgical procedure to remove the involved sweat glands in order to stop the skin inflammation. [livingnaturallyonline.com]
Am J Med Genet A. 2018 Author:Nishi E, Takasugi M, Kawamura R, Shibuya S, Takamizawa S, Hiroma T, Nakamura T, Kosho T Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution-based detailed [soar-rd.shinshu-u.ac.jp]
- Marfanoid Habitus
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, hyperextensibility**, thin skin, papyraceous scarring. [chronicpainpartners.com]
Other Findings May Include: Marfanoid Habitus (Marfan like features) Micro Cornea (abnormally small cornea) Radiologically Considerable Osteopenia (diminished amount of bone tissue) The Kyphoscoliosis Type of EDS is the result of a deficiency of lysylhydroxylase [learnaboutyourpain.com]
Marfanoid habitus. Talipes equinovarus. Refractive errors (myopia, hypermetropia). Skin fragility (easy bruising, friable skin, poor wound healing), widened atrophic scarring. Scleral and ocular fragility/rupture. Microcornea. Facial dysmorphology. [patient.info]
habitus Microcornea Osteopenia/porosis Positive family history Arthrochalasis Generalized joint hypermobility with recurrent subluxations Skin hyperextensibility AD COL1A1, COL1A2 (recurrent mutations) Congenital bilateral hip dislocation Tissue fragility [ojrd.biomedcentral.com]
Hematological
- Easy Bruising
Ehlers-Danlos syndromes are a group of disorders which share common features including easy bruising, joint hypermobility (loose joints), skin that stretches easily (skin hyperelasticity or laxity), and weakness of tissues. [medicinenet.com]
[…] pain, easy bruising, easy bleeding, normal scars Dominant TNXB ( (Not available through CDL) Vascular Type (EDS type IV) Thin, translucent skin with visible veins; marked bruising; skin and joints have normal extensibility; arterial, bowel and uterine [uwcpdx.org]
Easy bruising, functional bowel disorders, and cardiovascular autonomic dysfunction are common. Aortic root dilation, when present, is typically of a mild degree with no increased risk of dissection in the absence of significant dilation. [ncbi.nlm.nih.gov]
Spontaneous subluxation or dislocation of the joints and easy bruising are not uncommon and may occur with minimal trauma. The joints are often painful; acutely with dislocation or chronically with more generalized pain. [3pointproducts.com]
Ehlers-Danlos Syndrome Symptoms Because EDS is a collection of disorders, symptoms can vary by the specific disorder; however, joint hypermobility (the ability to extend beyond the normal range of motion) and excessively stretchy skin or easy bruising [arthritis.org]
Gastrointestinal
- Diarrhea
According to the study, children who have been diagnosed with JHS/EDS-HT and have a high incidence of multisystemic complaints including orthostatic intolerance, urinary incontinence, diarrhea, poor postural control, and high levels of pain and fatigue [rheumatologyadvisor.com]
Common GI symptoms were early satiety, bloating, nausea and vomiting (particularly after a meal), colonic spasms, constipation and diarrhea. Sweating too much or too little and dry eyes and mouth were reported. [mastattack.org]
Symptoms of mast cell activation syndrome include: Recurrent abdominal pain Flushing Itching Nasal congestion Coughing Chest tightness Wheezing Lightheadedness Diarrhea If you have some of these symptoms, there are blood and urine tests that can be run [standinguptopots.org]
Slow digestion causes nausea, loss of appetite, bloating, diarrhea or constipation, and difficulty swallowing. Urinary problems can include difficulty starting urination, incontinence, and incomplete emptying of the bladder. [caringmedical.com]
Forms of EDS within this category may present with soft, mildly stretchable skin, shortened bones, chronic diarrhea, joint hypermobility and dislocation, bladder rupture, or poor wound healing. [medical-dictionary.thefreedictionary.com]
Jaw & Teeth
- Periodontitis
Hyperelastic fragile skin Severe periodontitis (gum disease) Type IX Skeletal defects, characteristic bony horn -like overgrowths on back part of the skull Type X ( fibronectin deficiency) Both rare These 2 types are so similar that they possibly should [dermnetnz.org]
The periodontal type causes abnormalities of the teeth and gums. [ Read More ] [icdlist.com]
However, the presence of early-onset severe periodontal inflammation (often leading to premature tooth loss) can distinguish this form of EDS from the other types. 6. [uwcpdx.org]
Fragile skin is also a common manifestation of EDS, especially in people with the classic, kyphoscoliotic, and periodontitis types. EDS affects women more commonly than men. [forgottendiseases.org]
The classical, vascular, arthrochalasia, and periodontal forms of the disorder, and likely the hypermobile type, have an autosomal dominant pattern of inheritance. [ghr.nlm.nih.gov]
Skin
- Cutis Laxa
laxa AR 14 16 ELN Cutis laxa, Supravalvular aortic stenosis AD 78 113 FBLN5 Cutis laxa, Macular degeneration, age-related AD/AR 13 22 FBN1 MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia AD 1465 2679 FBN2 Congenital contractural [blueprintgenetics.com]
Cutis laxa. Superficially, the stretchy skin found in most forms of EDS may be confused with cutis laxa type 1 and type 2, as stretchy skin is also a feature of these conditions. [forgottendiseases.org]
Ehlers Cutis laxa, neigung zu Haemorragien in der haut, lockerung mehrerer artikulationen Derm. Z, 8 (1901), pp. 173 [2.] M. Danlos Un cas de cutis laxa avec tumeurs par contusión chronique des coudes et des genoux Butt. [archbronconeumol.org]
Terms: Cutis Elastica Synonyms Brittle cornea syndrome Congenital anomaly of sclera Congenital kyphoscoliosis Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Cutis laxa, x-linked Disorder of copper metabolism Distal arthrogryposis [icdlist.com]
This disorder was also referred to as X-linked cutis laxa, a term no longer used. OHS results from a defect in the same gene that is defective in Menkes disease, the copper-transporting ATPase, alpha subunit (ATP7A) gene. [themedicalbiochemistrypage.org]
- Papule
In addition, piezogenic papules under the skin also occur in EDS-H. Piezogenic papules are fat-filled skin elevations that form when pressure is applied. They often occur in the feet. [forgottendiseases.org]
Bilateral piezogenic papules of the heel 5. Recurrent or multiple abdominal hernia(s) (e.g., umbilical, inguinal, crural) 6. [rarediseases.info.nih.gov]
[…] thickened layers of skin termed ‘molluscoid pseudotumours’; small mobile nodules deep in the skin called ‘subcutaneous spheroids’; herniations of underlying fatty tissue through the lower layer of the skin leading to small painful lumps called Piezogenic papules [hypermobility.org]
Bilateral piezogenic papules of the heel. Recurrent or multiple abdominal hernia(s) - umbilical, inguinal, crural. [patient.info]
Musculoskeletal
- Joint Dislocation
Braces to stabilize joints and minimize dislocations Wheelchair use, in case of severe joint instability Rarely, surgery to repair joints damaged by repeated dislocations may be performed, if necessary How can Ehlers-Danlos Syndrome, Hypermobility Type [dovemed.com]
Recurrent joint dislocations or frank joint instability, in the absence of trauma (a or b) a. Three or more atraumatic dislocations in the same joint or two or more atraumatic dislocations in two different joints occurring at different times b. [rarediseases.info.nih.gov]
The JHS/EDS-HT phenotype generally consists of widespread arthralgia, joint dislocations, soft tissue injuries, deconditioning, muscle weakness, decreased exercise tolerance, proprioceptive deficits, and difficulties with motor skills. [rheumatologyadvisor.com]
Hypermobility type (formerly type III) Joint hypermobility is the major manifestation of this form of Ehlers-Danlos syndrome. Any joint can be affected, and dislocations are frequent. [medicinenet.com]
Eye involvement Scoliosis common (curved spine) Arthrochalasia Type VII A and B 3% of all cases Noticeable joint hypermobility but less skin involvement Spontaneous joint dislocation common Dermatosparaxis Type VII C Other Type V 5% Extensive skin hyperelasticity [dermnetnz.org]
- Joint Subluxation
[…] to promote increased joint stability and decrease likelihood of joint subluxation/dislocation, especially in upper extremity joints and vertebral joints Ophthalmologist Consultation to screen for myopia, retinal tears, and keratoconus common in individuals [physio-pedia.com]
[…] hypermobility COL5A1 or COL5A2 mutation; t ype V collagen (co-expressed with type I collagen) Hypermobility - Type III (hypermobile) autosomal dominant large and small joint hypermobility, recurring joint subluxations/dislocations, velvety soft skin, [orthobullets.com]
subluxations/dislocations Clubfoot Congenital dislocation of the hips Early-onset varicose veins Easy bruising Gingival recession Hypermobility of small joints Pneumothorax/pneumohemothorax Tendon/muscle rupture Thin, translucent skin a Any two major [raredr.com]
Dislocation/subluxation in more than one joint, or in one joint on more than one occasion. Soft tissue rheumatism. > 3 lesions (e.g. epicondylitis, tenosynovitis, bursitis). [chronicpainpartners.com]
Tendon/muscle rupture Early-onset varicose veins Arteriovenous carotid-cavernous sinus fistula Pneumothorax/pneumohemothorax Chronic joint subluxations/dislocations Congenital dislocation of the hips Talipes equinovarus (clubfoot) Gingival recession [uwcpdx.org]
- Arthralgia
The JHS/EDS-HT phenotype generally consists of widespread arthralgia, joint dislocations, soft tissue injuries, deconditioning, muscle weakness, decreased exercise tolerance, proprioceptive deficits, and difficulties with motor skills. [rheumatologyadvisor.com]
Arthralgia is a predominant chief complaint that might lead to a diagnosis of HEDS patients. Similarly, arthralgia is also a major complaint in many rheumatological conditions (i.e. [nature.com]
Major Criteria A Beighton score of 4/9 or greater (either currently or historically) Arthralgia for longer than 3 months in 4 or more joints Minor Criteria A Beighton score of 1, 2 or 3/9 (0, 1, 2 or 3 if aged 50+) Arthralgia (> 3 months) in one to three [chronicpainpartners.com]
Migraines and headaches, including postural headaches from spontaneous intracranial hypontension Fibromyalgia symptoms: Myalgia and arthralgia Other, less common signs and complications may include: Osteopenia (low bone density) Talipes equinovarus (club [medicalmarijuana.com]
Its most striking features are joint hypermobility (see photo at the right) and joint pain (arthralgia). Pain may be out of proportion to what would be suggested by clinical findings. Additionally, EDS-H is more common in women than men. [forgottendiseases.org]
- Myalgia
Migraines and headaches, including postural headaches from spontaneous intracranial hypontension Fibromyalgia symptoms: Myalgia and arthralgia Other, less common signs and complications may include: Osteopenia (low bone density) Talipes equinovarus (club [medicalmarijuana.com]
[…] skin A tendency to bruise easily Abnormal hip bone Loose joints (laxity of joints); overly-flexible joints i.e., a range of joint movement beyond what is normally observed Joint pain; vulnerability to joint dislocations (elbows, shoulder, kneecap, jaw) Myalgia [dovemed.com]
Due to joint instability, HEDS patients suffer from frequent joint stress and injury, leading to chronic arthralgia, soft-tissue rheumatism (i.e. tendonitis, bursitis, epicondylitis), and myalgia; many also suffer from frequent subluxations and dislocations [nature.com]
- Hyperlaxity
Summary The authors present a case of Ehlers-Danlos’ syndrome in its classical form that due to articular and ligamentous hyperlaxity was accompanied by orthopedic complications and skeletal deformities of various types, pectus carinatum with secondary [archbronconeumol.org]
Medical history A 6 year old Caucasian girl, known in the paediatric, clinical genetic and orthopaedic outpatient clinic since birth, was treated for severe skin problems, hyperlaxity of her joints and hypotonia. [f1000research.com]
National Library of Medicine - PubMed Health Ehlers-Danlos Support UK Ehlers-Danlos Foundation of New Zealand References [ edit ] ↑ Cashin-Garbutt, A; 2014 'Double-Jointed - Joint Hyperlaxity/Hypermobility'; http://www.news-medical.net/health/What-is-Double-Jointed.aspx [en.wikibooks.org]
Psychiatrical
- Suggestibility
Minimal clinical standards suggesting clEDS are all three major criteria plus a family history compatible with autosomal recessive transmission. [ehlers-danlos.com]
Research statistics on EDS suggest the prevalence of the disorder is 1 in 2,500 to 1 in 5,000, but due to difficulty recognizing and accurately diagnosing the Hypermobility Type, the incidence is suspected to be much greater. [3pointproducts.com]
The pain clinic doctor suggested I try meditating, or speaking to a therapist. I told him that I’ve seen a therapist for 8 years now, and that me and my current therapist have tried CBT for pain. [reddit.com]
[…] of the thumbs to the flexor aspect of the forearm – one point for each hand Hyperextension of the knees beyond 10 degrees – one point for each knee People who have a high degree of flexibility are often referred to as being 'double jointed' [1] which suggests [en.wikibooks.org]
Based on their findings, the researchers suggest that “these findings may help refine diagnostic strategy, genetic counseling and clinical care.” 6 References 1. Genetics Home Reference. [raredr.com]
- Fear
“S poonies feel they have to hide for fear of judgment from the able-bodied community. [themighty.com]
Unfortunately, EDS also produces a perpetual fear among patients that they will dislocate a joint or otherwise damage bone sockets. This results in sometimes extreme anxiety and mobility challenges. [massroots.com]
[…] or headaches Mildly stretchy skin that appears normal after being released Smooth, velvety skin Fragile skin that may scar abnormally and/or easy bruising Fragile blood vessels (especially capillaries) that are prone to rupturing Poor balance and/or fear [forgottendiseases.org]
This often leads to fear of movement that is aggravated with activity, ultimately leading to muscular deconditioning. [physio-pedia.com]
Some people with EDS have reported living with fears of significant and painful skin ruptures, becoming pregnant (especially those with EDS vascular type), their condition worsening, becoming unemployed due to physical and emotional burdens, and social [medical-dictionary.thefreedictionary.com]
Neurologic
- Headache
Migraines and headaches, including postural headaches from spontaneous intracranial hypontension Fibromyalgia symptoms: Myalgia and arthralgia Other, less common signs and complications may include: Osteopenia (low bone density) Talipes equinovarus (club [medicalmarijuana.com]
Prolotherapy for headache: pain in the head and neck, and neuritis. Headache. 1962; 3-11. 15. Hauser R, Hauser M. Prolo Your Pain Away, 3 rd Edition. 2007. Beulah Land Press. Oak Park, IL. P 188. 16. Pocinki AG. [caringmedical.com]
Patients complained of orthostatic symptoms like fatigue, difficulty concentrating, brain fog, chest pain, palpitations, headache, visual disturbances, shortness of breath and feeling “absent.” [mastattack.org]
Poor wound healing – Abnormal scarring – Chronic fatigue – Chronic pain – Cardiac abnormalities – Foot deformities – TMJ dysfunction – Low muscle tone – Hernias – Early osteoarthritis and degenerative discs – Various GI problems and allergies – Chronic headaches [edswellness.org]
Fatigue and headaches are also common symptoms of the syndrome 3. Ehlers-Danlos syndrome is caused by genetic mutations and is therefore most commonly inherited. [medicalmarijuanainc.com]
- Irritability
POTS symptoms were common, especially gut problems like Irritable Bowel Syndrome. The study participants had another thing in common: higher-than-normal levels of a protein called tryptase in their blood. [mentalfloss.com]
Use cautiously with gastrointestinal irritation or peptic ulcer disease due to anecdotal reports of gastrointestinal irritation. [livingnaturallyonline.com]
Swimming and aquatic based activities can help as the weight of their body is supported by water however, breaststroke can irritate the knees and hips and should be avoided. [13] [14] Further information [ edit ] Support Groups and information in Australia [en.wikibooks.org]
Cervical instability can provoke irritation of both the vertebral and sympathetic nerves. [caringmedical.com]
Functional bowel disorders (functional gastritis, irritable bowel syndrome) Gastroparesis Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy) Vascular skin conditions: Raynaud's phenomenon, Livedo reticularis Blue sclera [medicalmarijuana.com]
- Confusion
Confusion and misdiagnosis have only increased because not one person with hypermobility presents the same – EDS-HT is especially subjective. Awareness, education, and early intervention are critical. [edswellness.org]
For more on the JHS/BJHS/HMS/EDS-H/HT-EDS/EDSIII (sheesh) confusion in the medical community, I recommend EDHS Info's article. [murraymeetze.com]
(Not the Beighton 9 pt scale which was just part of the Brighton diagnostic criteria in a plot to confuse -that is still in use -for now.) We even have a brand new category of Hypermobility Spectrum Disorders (HSDs) to diagnose now too! [ohtwist.com]
Superficially, the stretchy skin found in most forms of EDS may be confused with cutis laxa type 1 and type 2, as stretchy skin is also a feature of these conditions. [forgottendiseases.org]
Fragile X Syndrome Not commonly confused with EDS, but does share some characteristics similar to EDS such as joint laxity and EDS-like skin abnormalities. [physio-pedia.com]
- Clumsiness
Clues to the reason for my clumsiness In more recent years, my body was besieged by an incessant, widespread, bone-deep aching pain. [health.harvard.edu]
I was always just that clumsy, accident prone kid.” 4. “Most people wouldn’t assume I’ve had multiple shoulder surgeries, including a total reconstruction, and countless spinal and nerve-related procedures to control pain. [themighty.com]
Mildly stretchy skin that appears normal after being released Smooth, velvety skin Fragile skin that may scar abnormally and/or easy bruising Fragile blood vessels (especially capillaries) that are prone to rupturing Poor balance and/or fear of falling Clumsiness [forgottendiseases.org]
skin Tissue fragility Poor wound healing resulting in elongated scarring (cigarette paper scars) Joint hypermobility Increased propensity for joint subluxations/disclocations Muscle weakness Delayed motor development Easy bruising Fatigue Frequent clumsiness [physio-pedia.com]
Workup
Subjects were further sorted into the categories of “no rheumatological workup” (ie physical exam only), “limited workup” (ie only ANA and RF), or “complete workup” (all serological markers, HLA B27, ESR, and CRP, etc). [acrabstracts.org]
Figure 1: Distribution of number of rheumatological diagnoses by workup status. NWU, no workup; LWU, limited workup; CWU, comprehensive workup. [nature.com]
[…] each elbow >10° (1 point each) forward flexion of trunk with palms on floor and knees fully extended (1 point) Imaging Radiographs look for joint dislocations/subluxations kyphoscoliosis Echocardiogram cardiac evaluation with echo is mandatory in the workup [orthobullets.com]
(October 2018 editor’s note: I used to have another pre-diagnostic medical workup page linked from The Coalition Against Pediatric Pain here too, but it seems to have been deleted, sorry!) [ohtwist.com]
Treatment
With regard to the lower limbs, a choice between conservative treatment vs. surgical treatment is an important step in the treatment process. [f1000research.com]
Ehlers-Danlos Syndrome Treatment The main goal of treatment for Ehlers-Danlos syndrome (EDS) is to prevent injury and complications. [arthritis.org]
Therapy treatment interventions for hypermobile EDS include gentle strengthening (i.e. for balance, coordination, and joint position sense) and customized joint protection techniques. [3pointproducts.com]
Treatment for EDS Treatment isn’t widely available. For most patients treatment is limited to medications that control the symptoms listed above. [ehlersdanlossyndrome.org]
The treatment for a patient with EDS can include small specific mobilization (slower and gentler movement than manipulation) from the chiropractor. [applehealthwellness.com]
Prognosis
What is the Prognosis of Ehlers-Danlos Syndrome, Hypermobility Type? (Outcomes/Resolutions) The prognosis of Ehlers-Danlos Syndrome, Hypermobility Type is determined by the severity of the disorder and overall health of the affected individual. [dovemed.com]
Expectations (prognosis) People with EDS generally have a normal life span. Intelligence is normal. Those with the rare vascular type of EDS are at significantly increased risk for rupture of a major organ or blood vessel. [medicalmarijuana.com]
Prognosis is heavily dependant on the type or classification of EDS that the patient has. Severe cases can be fatal but for the most part these individuals live a normal average life. [ehlersdanlossyndrome.org]
What is the prognosis of someone with an Ehlers-Danlos Syndrome? The prognosis depends on the type of Ehlers-Danlos syndrome and the individual. [ehlers-danlos.com]
The best treatment depends on the prognosis and current situation of the child. [f1000research.com]
Etiology
The etiology of the disease is believed to be the compromised structural integrity of the connective tissues (including tendons, muscles, and ligaments) as well as most body systems including the skin, eyes, and internal organs. [rheumatologyadvisor.com]
Except for a small subset with Haploinsufficiency of Tenascin X Deficiency, the etiology is currently unknown. To this end, diagnosis is strictly clinical. [mthfrheds.com]
(Etiology) It is believed that Ehlers-Danlos Syndrome, Hypermobility Type is caused by genetic mutations. In most cases, the exact cause for the disorder is not known. In some cases, however, mutation(s) in the TNXB gene lead to this disorder. [dovemed.com]
Etiology, diagnosis, and treatment implications. Sports Health 4(5): 394-403. Full text on PubMed. 5. Castori M et al. (2010) Ehlers-Danlos syndrome hypermobility type and the excess of affected females: possible mechanisms and perspectives. [forgottendiseases.org]
Blue sclera, short fingers, and short statue are also common in this form of EDS. 4 Potential Etiologies Ehlers-Danlos is said to be a genetic disorder. [morphopedics.wikidot.com]
Epidemiology
Epidemiology Frequency International Worldwide, more than 1.5 million people are diagnosed with Ehlers-Danlos syndrome (EDS). EDS (all types combined) is reported to have a 1 in 5,000-10,000 population frequency. [emedicine.medscape.com]
The prevalence for ten of these conditions in the general population cannot be identified ( Supplementary Table S2 ), either because these conditions are too rare or because epidemiological data do not exist. [nature.com]
Epidemiology of Ehlers-Danlos syndromes [ 4 ] Prevalence of EDS is usually quoted as about 1/5,000 for all types, with hEDS hypermobility type accounting for about half of all registered cases: however, hEDS is an underdiagnosed condition; a frequency [patient.info]
Pathophysiology
Morbidity in EDS is related to the primary pathophysiology and includes dislocations, pain, or both from chronic joint laxity and instability. [emedicine.medscape.com]
5] Australia has just hosted its' first EDS conference in July 2014 which was open to medical professionals, allied health professionals but perhaps more importantly, those suffering from EDS and their families. http://www.edsconference.com.au/2014/ Pathophysiology [en.wikibooks.org]
Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency. [soar-rd.shinshu-u.ac.jp]
Prevention
Ehlers-Danlos Syndrome, Hypermobility Type is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence. [dovemed.com]
Understanding the mechanisms that influence the progression of this disease may allow clinicians to identify children who are at high risk, in an effort to provide earlier treatment and prevent further functional loss. [rheumatologyadvisor.com]
In additional, there are several steps you can take to prevent injury. [healthline.com]
It also includes learning how to protect your joints and prevent injuries. [medlineplus.gov]
Schulz Authors note: Texas A&M University Year: 2000 Reference: Veterinaria n.2 Supplemento Dicembre 2000 Pages: 5 - 15 Download attachments: PDF (20246 Downloads) Related items Leishmaniasis prevention: what should be known before recommending a topical [veterinaria.scivac.org]