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]
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]
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]
Tissue fragility including atrophic scars and easy bruising. Spontaneous arterial rupture can occur. [learnaboutyourpain.com]
Musculoskeletal
- 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]
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]
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]
Ehlers-Danlos Syndrome Treatment The main goal of treatment for Ehlers-Danlos syndrome (EDS) is to prevent injury and complications. [arthritis.org]
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]