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Ehlers-Danlos Syndrome Hypermobility Type

Ehlers-Danlos Syndrome Type 3


  • 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]
  • 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]
  • 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]
  • Due to the ubiquity of connective tissue, patients are often afflicted with a plethora of non-musculoskeletal symptoms, such as dysautonomia (i.e. positional orthostatic tachycardia, chronic fatigue, etc.), abnormal proprioception, headaches, and gastrointestinal[nature.com]
Congestive Heart Failure
  • The physical limitations observed in POTS patients, the most common form of orthostatic intolerance for HEDS patients, were comparable to those seen in people with congestive heart failure or COPD.[mastattack.org]
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]
  • 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]
  • Possible diagnosis of EDS type VIII: Clinical features of EDS VIII such as hyperextensible joints, atrophic scarring, and easy bruising can often overlap with other forms of EDS.[uwcpdx.org]
  • Tissue fragility including atrophic scars and easy bruising. Spontaneous arterial rupture can occur.[learnaboutyourpain.com]
  • Ehlers-Danlos Syndrome, Hypermobility Type can lead to the following complications: Bruising of skin Repeated joint dislocations Early-onset arthritis Chronic muscle pain Delayed wound healing Spontaneous rupture of blood vessels Mitral valve regurgitation[dovemed.com]
  • Both mitral regurgitation and (more rarely) aortic root dilatation are sometimes seen in cEDS.[patient.info]
Early Satiety
  • 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]
Chest Pain
  • 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]
  • Hyperalgesia is commonly seen in children and adults with hypermobility EDS due their central nervous system being highly sensitized Cardiopulmonary Dysautonomia or Autonomic Dysfunction resulting in abnormal chest pain, palpitations at rest or with exertion[physio-pedia.com]
Loose Elastic Skin
  • Presence of loose, elastic skin (the extent of elasticity may vary from one to another); abnormally-thin skin. or smooth “velvety” skin A tendency to bruise easily Abnormal hip bone Loose joints (laxity of joints); overly-flexible joints i.e., a range[dovemed.com]
  • We found that several structural deformities or deficiencies (i.e. club foot, hereditary angioedema, primary hypogammaglobulemia), non-inflammatory diseases (fibromyalgia, erythromelaglia), and autoimmune/inflammatory diseases (psoriasis, PsA, AS, RA,[nature.com]
Dry Eyes
  • Sweating too much or too little and dry eyes and mouth were reported. Raynaud’s phenomenon and purple limbs upon standing affected many HEDS patients. Sensitivity to light and difficulty focusing vision occurred due to dysregulation of pupils.[mastattack.org]
  • 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]
  • 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]
  • 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]
Wrist Pain
  • Complaints of generalized hand and wrist pain in those with EDS can be reduced or relieved by simple therapy interventions including compression gloves, adjustable wraps and a carefully tailored exercise program.[3pointproducts.com]
  • Of the 32 subjects with complete workup, 16 (50%) also had a rheumatological disease (psoriasis, PsA, SS, RP, uveitis, enthesopathy, uSpA, autoimmune thyroiditis, AS, scoliosis, Scheurmann’s disease, primary hypogammabulemia, pernicious anemia, fibromyalgia[acrabstracts.org]
Long Arm
  • This term means that a person is tall and slender, with long arms, hands, fingers, legs, feet and toes. A Marfanoid body habitus occurs in a minority of EDS-H patients, but it does not appear to be generally associated with classic EDS.[forgottendiseases.org]
Panic Attacks
  • He reviewed the symptoms (under the DSM) of common psychological disorders, including panic attacks, panic disorder, ADHD, and hypomania (bipolar disorder).[edser.weebly.com]
Urinary Incontinence
  • 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]
  • incontinence often seen in adolescents with Type III Oral/Dental Periodontal disease resulting in friability, gingivitis, and gum recession Presence of a high, narrow palate combined with dental crowding Hematologic Easy bruising Prolonged bleeding times[physio-pedia.com]
Pelvic Pain in Women
  • POTS) – Dental issues – Chronic pelvic pain in women and various gynecological issues – Congenital defects of the spine (including the head, neck, and the entire spinal column) – ADD/ADHD – Learning disabilities – Sensory Processing issues – Autism –[edswellness.org]
Pelvic Pain
  • POTS) – Dental issues – Chronic pelvic pain in women and various gynecological issues – Congenital defects of the spine (including the head, neck, and the entire spinal column) – ADD/ADHD – Learning disabilities – Sensory Processing issues – Autism –[edswellness.org]
Difficulty Concentrating
  • An overall large burden of autonomic symptoms was also seen in patients with fatigue and difficulty concentration.[mastattack.org]


  • 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]
  • We used sign test to calculate the prevalence of the HLA-B27 antigen in our population versus the general population.[nature.com]
  • 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]


  • 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]
  • 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]
  • The treatment for Ehlers-Danlos Syndrome, Hypermobility Type is symptomatic, as there is no cure for the disorder.[dovemed.com]
  • Pocinki spoke about the treatment of ANS dysfunction, which means the treating physician must address the underlying problems. Sleep is a patient's only chance to, metaphorically, put gas in his or her tank.[edser.weebly.com]
  • With regard to the lower limbs, a choice between conservative treatment vs. surgical treatment is an important step in the treatment process.[f1000research.com]


  • 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]


  • 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]
  • (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]
  • 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]
  • 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]


  • 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 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]
  • 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]
Sex distribution
Age distribution


  • Morbidity in EDS is related to the primary pathophysiology and includes dislocations, pain, or both from chronic joint laxity and instability.[emedicine.medscape.com]
  • Pathophysiology [ edit ] Clinically it can be difficult to differentiate between EDS and BJHS and they can often be considered to be the same.[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]


  • 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]
  • Prevention If you have a personal or family history of Ehlers-Danlos syndrome and you're thinking about starting a family, you may benefit from talking to a genetic counselor — a health care professional trained to assess the risk of inherited disorders[mayoclinic.org]
  • Wounds must be tended with great care and infections treated and prevented. Suturing can be difficult as the skin can be extremely fragile. Joint injury must be avoided. Occasionally, bracing may be necessary to maintain joint stability.[medicinenet.com]
  • In additional, there are several steps you can take to prevent injury.[healthline.com]

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