Ehlers-Danlos syndromes(EDS)

Ehlers-Danlos Syndromes(EDS)

Fiona LiPharm D Candidate

University of Saint JosephSchool of Pharmacy

Objectives

Describe common manifestations and pathophysiology of Ehlers-Danlos Syndrome

Discuss current treatment & management options

Patient Background

22 year old female

Chief Complaint: Severe right lower quadrant pain, with vomiting

Past Medical History: Ehlers-Danlos Syndrome Recurrent urinary tract infections

Patient Background(Cont.)

Social History: Marijuana use, smoking

Allergy: No known allergies

No remarkable lab results

Patient MedicationHome medication Hospital medicationPantoprazole 40mg PO qDay Pantoprazole 40mg IV push BIDHydromorphone 2mg q4hr prn Hydromorphone 1-2mg IV onceMedroxyprogesterone q90days Senna 8.6mg po BIDDiazepam 5mg QID, prn Lorazepam 1mg IV push q4h

Docusate 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

Ehlers-Danlos Syndrome(EDS) Hereditary connective tissue disorder (autosomal

dominant or recessive traits) Prevalence: 1/10000 to 1/25000 20,000-50,000 EDS patients in the US

Signs/Symptoms Joint hypermobility Skin hyperextensibility Tissue fragility Pain

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.

Signs & SymptomsvEDS

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

Classification Of EDS Six subtypes of EDS

Classical Vascular Hypermobility Kyphoscoliotic Arthrochalasia Dermatosparaxis

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.

Vascular Type Of EDS Vascular type EDS, 5% of all EDS cases

Deficiency of collagen type III Decreased/absent collagen synthesis or abnormalities in collagen secretion

Poor prognosis Most severe subtype Life threatening vascular ruptures Aneurysm formationAly 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 Diagnosis Classification and diagnosis of EDS is difficult Diagnosis

Clinical symptoms: Beighton Score, Brighton/Villefranche criteria

Laboratory studies Qualitative and quantitative testing of collagen subtypes

Genetic mutation analysis Positive family history

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

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

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=

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

EDS Management Patient education

Prevention and early recognition of injuries/complications

Monitoring & Interventions Particular manifestations Complications with each forms of EDS Medical alert device

No medical treatments

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

EDS Management-Joint Protection Principle of management:

Optimize function, relieve symptoms, and prevent injury

Joint protection and function Preserve and protect joint function Prevent recurrent joint dislocations, chronic joint

pain and early onset of osteoarthritis Swimming, walking, and taichi Vitamin C 500 mg daily Avoid carrying items weighing> 5 lbs

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

EDS Management-Pain Management Chronic musculoskeletal pain, resembles fibromyalgia Associated with joint damage, with neuropathic

features Acetaminophen NSAIDs (avoid in patient with easy bruising) Opioid medications (controversial) Ice on the joints Meditation/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)

EDS Management-Skin Fragility/Bruising

Protective bandages/pads over exposed areas

Avoid heavy exercise, contact sports Avoid aspirin, NSAIDs, anticoagulants Recommend Vitamin C, 1-4 g daily in

adults, it shows decrease bruising and improve wound healing

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

EDS Management-Bleeding Disorders Vasopressin analogue, desmopressin

(DDAVP) Tranexamic acid Recombinant FVIIa Avoid drugs that interfere with hemostatic

process(ASA, NSAIDs, anticoagulants) Avoid invasive vascular procedures

whenever possible Ultrasound 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

Monitoring Non-invasive monitoring Cardiovascular disease Ophthalmology Spine disease Individualized 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=

Patient Case Pain management

Hydromorphone 1-2 mg IV q4hr Ketorolac 30 mg IV once Acetaminophen 650 mg po q4hr prn Lorazepam 1 mg IV push q4hr Ice on joints