FRCA Notes

Ehlers-Danlos Syndrome

Resources

  • A spectrum of genetically and phenotypically diverse conditions characterised by varying degrees of connective tissue involvement
  • Incidence approximately 1:10:000 - 1:25,000 depending on subtype
  • May be either autosomal dominant or recessive although up to 50% occur de novo
  • Originally classified by Villefranche in 1998
  • Re-classified in 2017 owing to identification of a whole spectrum of novel EDS subtypes and mutations
  • The vascular subtype (Villefranche IV/modern vEDS) has the poorest prognosis but accounts for only 4% of cases
Villefranche classification Description
I Classic
II Classic
III Hypermobile
IV Vascular
VIa Kyphoscoliosis
VIIa and VIIb Arthrochalasia
VIIc Dermatosparaxis


  • Joint hypermobility
  • Skin hyperextensibility
  • Delayed wound healing with atrophic scarring
  • Tissue fragility

  • Chronic neuropathic or musculoskeletal pain (up to 90%) especially Type III/hEDS due to repeat subluxation/dislocation

  • Bleeding tendency
    • Platelet aggregation abnormalities in ∽26% of patients
    • Rumpel-Leede (tourniquet) test; positive result indicates capillary fragility
    • There may be deficiencies of factors 8, 9, 11, 12, 13

Perioperative management of the patient with Ehlers-Danlos syndrome


History and examination

  • Thorough history and examination to establish subtype
  • Establish whether there's a history of abnormal bleeding
  • Focussed cardiac history to establish whether patient may have undiagnosed valvular pathology

Investigations

  • FBC and clotting although these may be normal
  • TTE in those whose subtype is associated with structural cardiac complications
  • Haematology input regarding bleeding/clotting abnormalities and perioperative management
  • Ensure adequate amount of cross-matched blood available

Monitoring and access

  • AAGBI
  • Invasive monitoring only if clinically indicated as it can predispose to vascular wall dissection
  • If CVC needed, avoid subclavian vein due to incompressibility
  • Minimise needlestick attempts and use ultrasound for vascular access

Neuraxial techniques

  • Avoid spinal or epidural in those with vascular subtype (Type IV) owing to increased risk of spinal haematomas
  • Avoid epidural in those with CSF-filled Tarlov cysts as increases risk of dural puncture (typically affect sacral areas)
  • Other challenges:
    • Challenging technically owing to scoliosis or other spinal pathology
    • Reduced effectiveness of LA, which may be inherent or due to scarring, kyphosis or scoliosis

GA technique

  • Anticipate difficult airway owing to the tendency for:
    • TMJ dislocations
    • Premature spondylosis
    • Occipital-atlantial instability
    • Laryngo- or tracheo-malacia
    • Poor dentition due to periodontitis
  • Avoid BURP/cricoid

  • Mucosal damage and bleeding more common
    • Repeated intubation attempts may cause more significant damage
    • Fibreoptic intubation may be beneficial to reduce risk of damage
    • Use smaller tubes and monitor cuff pressures

  • Use supraglottic devices where possible
  • Use spontaneously ventilating technique or minimise inspiratory pressures due to risk of pneumothorax
  • Titrate NMBA against monitoring to avoid excessive use

Cardiovascular management

  • Minimise periods of hypertension to reduce risk of aortic dissection
  • Blood loss
    • Use point-of-care coagulation testing to reduce unnecessary transfusions
    • Cell salvage even in small procedures
    • TXA
    • Desmopressin has been shown to reduce transfusion requirements
  • There may be associated POTS syndrome; pre-operative IV fluids and early use of vasopressors is recommended

Care bundle

  • Meticulous approach to positioning
  • Appropriate ocular padding
  • Avoid adhesive tapes due to skin fragility
  • Tourniquet contra-indicated due to risk of unstoppable diffuse bleeding, haematoma and compartment syndrome

Obstetrics

  • Uterine rupture in the third trimester is described in those with the vascular subtype
  • No consensus on optimal anaesthetic technique
  • Avoid routine episiotomy

  • Mutli-modal analgesia, acknowledging patients may have chronic pain syndromes
  • Multi-modal anti-emesis; oesphageal rupture is described in response to vomiting especially in Type IV/vEDS
  • Caution with NSAIDs as may interfere with haemostatic process
  • Vigilance for bleeding and haematoma