ehlers-danlos syndromes(eds)

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Ehlers-Danlos syndromes(EDS)

Ehlers-Danlos Syndromes(EDS)Fiona LiPharm D CandidateUniversity of Saint JosephSchool of Pharmacy

EDS is named after the Danish and French dermatologists Edvard Ehlers and Henri-alenxandre Danlos, they independently described this disease in 1901 and 1908.

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ObjectivesDescribe common manifestations and pathophysiology of Ehlers-Danlos Syndrome

Discuss current treatment & management options

Patient Background22 year old female

Chief Complaint: Severe right lower quadrant pain, with vomiting

Past Medical History:Ehlers-Danlos SyndromeRecurrent urinary tract infections

Patient Background(Cont.)Social History: Marijuana use, smoking

Allergy: No known allergies

No remarkable lab results

Patient MedicationHome medicationHospital medicationPantoprazole 40mg PO qDayPantoprazole 40mg IV push BIDHydromorphone 2mg q4hr prnHydromorphone 1-2mg IV onceMedroxyprogesterone q90daysSenna 8.6mg po BIDDiazepam 5mg QID, prn Lorazepam 1mg IV push q4hDocusate 100mg po BIDKetorolac 30mg IV onceCeftriaxone 1gm IV q24h for 4 daysLevofloxacin 750mg po q24hr for 8dOndansetron 4mg IV oncePromethazine 25mg IV once prnTamsulosin 0.4mg po qdayAcetaminophen 650mg po q4h prnContinuous infusions NSS 1000ml

Tamsulosin for kidney stone5

Ehlers-Danlos Syndrome(EDS)Hereditary connective tissue disorder (autosomal dominant or recessive traits)Prevalence: 1/10000 to 1/2500020,000-50,000 EDS patients in the USSigns/SymptomsJoint hypermobilitySkin hyperextensibilityTissue fragilityPain

Aly Abayazeed, Vascular type Ehlers-Danlos syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature. J Radiol Case Rep.2014 Feb;8(2):63-69.

of vascular type EDS experience a significant medical problem by 20 years of age and more than 80% by the age of 40, leading to an average age of death of 48 years.Surgical or vascular interventions, but typically unsuccessful due to severe vascular wall friability are risky and usually associated with poor wound healing., iliac arteries were the most common arteries to develop dissections and ruptures in this rare type of EDS. Overall mortality of 90% before the age of 50 because of spontaneuous rupture of vessels and internal organsvascular rupture, spontaneous perforations and soft tissue 6

Signs & Symptoms

vEDS

https://www.google.com/search?q=ehlers&biw=801&bih=811&source=lnms&tbm=isch&sa=X&ei=bls1VfrzD8alNoXwgKgP&ved=0CAgQ_AUoAw#tbm=isch&q=ehlers-danlos+syndrome

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Classification Of EDSSix subtypes of EDSClassicalVascularHypermobilityKyphoscolioticArthrochalasiaDermatosparaxis

Aly Abayazeed, Vascular type Ehlers-Danlos syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature. J Radiol Case Rep.2014 Feb;8(2):63-69.

Jakob Burcharth,Jacob Rosenberg, Gastrointestinal surgery and related complications in patients with Ehlers-Danlos syndrome:A systematic review, Dig Surg 2012;29:349-357.

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Vascular Type Of EDSVascular type EDS, 5% of all EDS casesDeficiency of collagen type IIIDecreased/absent collagen synthesis or abnormalities in collagen secretionPoor prognosisMost severe subtypeLife threatening vascular ruptures Aneurysm formation

Aly Abayazeed, Vascular type Ehlers-Danlos syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature. J Radiol Case Rep.2014 Feb;8(2):63-69.

EDS DiagnosisClassification and diagnosis of EDS is difficultDiagnosisClinical symptoms: Beighton Score, Brighton/Villefranche criteria Laboratory studiesQualitative and quantitative testing of collagen subtypesGenetic mutation analysisPositive family historyJakob Burcharth,Jacob Rosenberg, Gastrointestinal surgery and related complications in patients with Ehlers-Danlos syndrome:A systematic review, Dig Surg 2012;29:349-357.

One of the common symptoms is joint hypermobility, Beightons test(5 out of 9), villefranche criteria is for classification of EDS11

https://www.google.com/search?q=ehlers&biw=801&bih=811&source=lnms&tbm=isch&sa=X&ei=bls1VfrzD8alNoXwgKgP&ved=0CAgQ_AUoAw#tbm=isch&q=brighton+criteria

4 out of 9 will be EDS-HT12

https://www.google.com/search?q=brighton+criteria&biw=1600&bih=837&tbm=isch&imgil=uA4I-rvyVPNe9M%253A%253BGnc3YhGvGc4kdM%253Bhttp%25253A%25252F%25252Fjaoa.org%25252Farticle.aspx%25253Farticleid%2525253D2093276&source=iu&pf=m&fir=uA4I-rvyVPNe9M%253A%252CGnc3YhGvGc4kdM%252C_&usg=

Brighton criteria for joint hypermobility syndrome13

http://www.bing.com/images/search?q=willefranche+criteria+&view=detailv2&id=A4E24D324E13213A98B2A02A7199B93CDE73D8E9&ccid=O6tQzHTF&simid=608020249839668791&thid=JN.JPPNn7U8onSyZtPnYskdhw&first=1&selectedindex=3

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EDS ManagementPatient educationPrevention and early recognition of injuries/complicationsMonitoring & InterventionsParticular manifestationsComplications with each forms of EDSMedical alert deviceNo medical treatmentsSusan P Pauker, Joan Stoler. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. Uptodate, Mar 2015.

Medical alert device: such as a bracelet or necklace, which indicates their diagnosis and possible complicatons to facilitate appropriate emergency medical care.Based on different types and particular manifestations, such as pain, depression, cardiovascular symptoms15

EDS Management-Joint ProtectionPrinciple of management: Optimize function, relieve symptoms, and prevent injuryJoint protection and functionPreserve and protect joint functionPrevent recurrent joint dislocations, chronic joint pain and early onset of osteoarthritisSwimming, walking, and taichiVitamin C 500 mg dailyAvoid carrying items weighing> 5 lbs

Susan P Pauker, Joan Stoler. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. Uptodate, Mar 2015.

Joint protection and function especially in classic and hypermobility forms EDS16

EDS Management-Pain ManagementChronic musculoskeletal pain, resembles fibromyalgiaAssociated with joint damage, with neuropathic featuresAcetaminophenNSAIDs (avoid in patient with easy bruising)Opioid medications (controversial)Ice on the jointsMeditation/relaxation techniques

Claudia Celletti,Marco Castori. Evaluation of Kinesiophobia and Its Correlations with Pain and Fatigue in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility type. Biomed Res Int. 2013; Jul 14Ballantyne JC, MaoJ. Opioid therapy for chronic pain. N Engl J Med. 2003 Nov 13;349(20:1943-53)

Physical modalities such as heat, cold, ultrasound, and electrical stimulation to decrease pain during exercise or activity. The use of opioid medications in patients with chronic, non-cancer pain remains controversial, some patients may display improvements, other patients may onlyhave minimal benefits, because they may develop physiological tolerance; some patient pain dont response to opioids. In addition, side effects, such as sleepiness or difficulty with thinking can decrease patient activity level.17

EDS Management-Skin Fragility/BruisingProtective bandages/pads over exposed areasAvoid heavy exercise, contact sports Avoid aspirin, NSAIDs, anticoagulantsRecommend Vitamin C, 1-4 g daily in adults, it shows decrease bruising and improve wound healingSusan P Pauker, Joan Stoler. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. Uptodate, Mar 2015.

Since ascorbic acid is cofactor for cross-liking of collagen fabrils18

EDS Management-Bleeding DisordersVasopressin analogue, desmopressin (DDAVP)Tranexamic acidRecombinant FVIIaAvoid drugs that interfere with hemostatic process(ASA, NSAIDs, anticoagulants)Avoid invasive vascular procedures whenever possibleUltrasound guidance if it is unavoidable to central venous catheterizationThomas wilesmann, Marco Castori. Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome. Orphanet J Rare Dis. 2014;9:109

vasopressin analogue DDAVP has been reported to reduce bleeding tendency temporarily in subjects undergoing dental of surgical procedures, DDAVP improves the bleeding time and reduces transfusion requirments; the Mechanism is unknown, it increases plasma levels of factor VIII and von-willebrand factor; case report of successful use of recombinant factor VIIa in a patient with vascular EDS with continued bleeding

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MonitoringNon-invasive monitoring Cardiovascular disease OphthalmologySpine diseaseIndividualized depending on the severity of disease and specific manifestations , tailored to the type of EDS

Thomas wilesmann, Marco Castori. Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome. Orphanet J Rare Dis. 2014;9:109

http://www.bing.com/images/search?q=Ehlers-Danlos%20spinal&qs=n&form=QBIR&pq=ehlers-danlos%20spinal&sc=8-20&sp=-1&sk=

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Patient CasePain managementHydromorphone 1-2 mg IV q4hrKetorolac 30 mg IV onceAcetaminophen 650 mg po q4hr prnLorazepam 1 mg IV push q4hrIce on joints

The patient stayed for couple of days, this was what we did.21

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