Presentation
Present On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery [icd10data.com]
Sponsored by www.bodysupportstore.com TOPIC: “Vascular Ehlers-Danlos Syndrome / EDS type IV” PRESENTER : Dr. Peter Byers About our speaker: Dr. [chronicpainpartners.com]
E hlers-Danlos syndrome (EDS) is a hereditary collagen disease presenting primarily as dermatological and joint disorders. [cda-adc.ca]
Presentation Most types of EDS present with symptoms affecting skin and joints. However, many systems can be affected. [patient.info]
Type 1 typically presents with severe skin involvement, and type 2 presents with mild to moderate skin involvement. Patients with the Classical Type may experience the same symptoms as the Hypermobility Type. [snpedia.com]
Entire Body System
- Hypothermia
• Neurovegetative disorders (intolerance to vertical position, sweating, tachycardia, hypotension, hypothermia, chilliness, cold extremities, especially feet). • Hemorrhages (bruising, gingivorrhagia, epistaxis, metrorrhagia). • Hypersensitivity: Hearing [omicsonline.org]
Hematological
- Easy Bruising
[…] 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]
The surgeons chose a total colectomy because recurrent perforation is frequent in patients treated with resection and diversion. 11 The association of ‘spontaneous’ colonic perforation, haemostatic disorders with tendency to easy bruise should raise a [academic.oup.com]
Easy bruising is common. Joint hypermobility is the primary clinical manifestation. [nature.com]
Signs and Symptoms of Vascular EDS The signs and symptoms of vascular EDS vary by patient; however, easy bruising, even after sustaining only minor trauma, is a common finding. 2,3 Patients with this condition may have soft skin that appears thin and [raredr.com]
[…] from classical form Type V X-linked Similar to mild classical type X-linked recessive inheritance Unknown molecular defect Type X Joint hyperextensibility, mitral valve prolapse, easy bruising, poor wound healing, clotting disorder Clotting studies showed [en.wikibooks.org]
Musculoskeletal
- Muscle Hypotonia
Major criteria are: Congenital muscle hypotonia, and/or muscle atrophy, that improves with age; Proximal joint contractures (knee, hip and elbow); and Hypermobility of distal joints. There are four minor criteria. [ehlers-danlos.com]
It causes congenital muscle hypotonia, and/or muscle atrophy, that improves with age. There may be joint contractures or hypermobility. [patient.info]
Immobility may have arisen from joint damage, deformity or muscle hypotonia. However, many of our patients had low bone mass even in their 20s, supporting an effect on bone mass that is either inherited or acting in the early years. [ard.bmj.com]
hypotonia Other features Ocular fragility Skin fragility Easy bruisability Dermal hyperextensibility Risk for arterial rupture Most have radiologically detectable osteopenia (decreased bone density), but pathological fractures are rare Intelligence is [en.wikibooks.org]
[…] related to muscle tension in cervical spine and TMJ dysfunction Neuromuscular Low muscle tone (hypotonia) Generalized muscle weakness-- more likely due to a muscle dysfunction than atrophy and muscle loss Decreased reflexes in the knee extensors and flexors [physio-pedia.com]
- Arthralgia
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]
[…] of skin, acrogeria( older appearance), cigar shaped scars,keloid formation) Mitral Prolapse and Aortic Regurgitation cannot be ruled out in EDS vascular type Corneal Displacement cannot be ruled out in Marfans Dural Ectasia cannot be ruled out in EDS Arthralgia [forums.studentdoctor.net]
This can occur in association with joint noises, myofascial pain, arthralgia, and parafunctional habits. The fibrocartilagenous structure, supporting ligaments and the retrodiscal tissue are composed of mainly type I, III and V collagen. [jdrr.org]
- Severe Joint Laxity
This form of EDS is congenital, and is associated with severe muscle hypotonia, scleral fragility, placing the globe at an increased risk for rupture, and severe joint laxity in addition to the scoliosis. [morphopedics.wikidot.com]
- Torticollis
[…] malformations, deformations and chromosomal abnormalities Q79 ICD-10-CM Diagnosis Code Q79 Congenital malformations of musculoskeletal system, not elsewhere classified 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 2 Excludes congenital (sternomastoid) torticollis [icd10data.com]
- Increased Muscle Mass
This seems to be particularly true of men, because of their increased muscle mass. [clinicaladvisor.com]
Psychiatrical
- Behavior Disorder
These diagnoses primarily include mental disorders that sometimes lead to hospitalizations in psychiatry. [omicsonline.org]
Workup
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]
It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. [ehlersdanlosnews.com]
[…] group richmond va ehlers- syndrome type x Her previous thoughts forgotten, Yes, quite a bit, he s wonderful. ehlers-danlos syndrome and intracranial hypertension ehler danlos syndrome type 3 ehlers danlos syndrome blog ehlers-danlos syndrome type 4 treatment [wheatcorsage.floatingtrem.com]
CCA is a rare condition, and there is limited understanding of its pathophysiology and treatment options. [acgcasereports.gi.org]
Prognosis
[…] ritter ehlers danlos syndrome tenascin-x deficient ehlers-danlos syndrome ehlers-danlos syndrome type 4 symptoms That s because she assumes we actually slept together last night. ehlers syndrome symptoms pictures ehlers- syndrome hypermobility type prognosis [wheatcorsage.floatingtrem.com]
The best treatment depends on the prognosis and current situation of the child. [f1000research.com]
The prognosis with this type is poor. Sudden death can occur after visceral perforation or after the rupture of a large vessel, most commonly an abdominal and splenic vessel. [emedicine.medscape.com]
Etiology
[…] have cardiac abnormalities Mitral valve prolapse Aortic root dilation with occasional rupture Scoliosis Pes planus (flatfoot) Molluscoid pseudotumors (calcified hematomas) may be associated with scars Inheritance Autosomal dominant single-gene disorder Etiology [en.wikibooks.org]
The initial chapters discuss surgical anatomy of hernias, incidence and etiology, diagnosis and anaesthesia. The following sections are each dedicated to a different type of hernia and its surgical management. [books.google.de]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
Ongoing controversies regarding etiology, diagnosis, treatment Neurosurgical complications, including Chiari malformation, craniocervical instability and cervical instability, as well as occult tethered cord, have only recently been associated with Ehlers-Danlos [clinicaladvisor.com]
The usual medical culture perceives a disease as an entity that has an etiological basis, which presents a characteristic clinical picture, and which requires appropriate treatment. [avensonline.org]
Epidemiology
A brief history of the disease is presented along with the epidemiology and characteristics of the 8 main phenotypes of the syndrome. [cda-adc.ca]
Conclusion Ehlers-Danlos disease has been widely underestimated from epidemiological point of view (this is not a rare disease, it is common), severity (patients who suffer from it are fragile and often socially excluded) and transmission (it is systematic [omicsonline.org]
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 Ehlers-Danlos syndrome demonstrates an equal prevalence amongst males and females of all racial and ethnic backgrounds. [7], [8] Combined prevalence of all EDS subtypes is about 1/5000 [7], [8], [9], [10] with hypermobility and classic types [jdrr.org]
Pathophysiology
CCA is a rare condition, and there is limited understanding of its pathophysiology and treatment options. [acgcasereports.gi.org]
Morbidity in EDS is related to the primary pathophysiology and includes dislocations, pain, or both from chronic joint laxity and instability. [emedicine.medscape.com]
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
Preventive measures in EDS will include consequent protection of the eye from trauma and definite therapy of the dry eye syndrome. [dog.org]
Ehlers-Danlos Syndrome, Dermatosparaxis Type is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence. [dovemed.com]
Treatments of EDS mostly focus on alleviating symptoms and preventing further complications. [ehlersdanlosnews.com]
How can Ehlers-Danos syndrome be prevented? Ehlers-Danlos syndrome is a hereditary disorder. Severe musculoskeletal manifestations may be prevented by avoiding high-impact physical exercise. [clinicaladvisor.com]
If you have vascular or regular EDS with severe symptoms that prevent you from working, you may be able to get disability. [disabilitysecrets.com]