Ehlers-Danlos syndromes
Other names EDS
Anesthetic relevance Moderate
Anesthetic management Care with airway management, invasive monitoring, and positioning.
Specialty Vascular, cardiology
Signs and symptoms Joint/skin laxity, joint hypermobility, aortic insufficiency and aortic root dilation
Diagnosis Genetic testing
Treatment

Ehlers-Danlos syndromes (EDS) are a set of heritable heterogenous connective tissue disorders characterized by defects in collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. EDS patients often have vascular fragility syndromes with arterial aneurysms and dissections. Patients also have kyphoscoliosis and due to the underlying connective tissue abnormalities, these patients often present for orthopedic surgery. Overall, there is very little evidence-based knowledge for the management of EDS. Much of the literature is based upon expert opinion.

Anesthetic implications

Preoperative optimization

  • Preoperative evaluation should focus on bleeding history, cervical/TMJ hypermobility, skin fragility, scoliosis, signs of mitral/aortic insufficiency
  • Vascular instability may cause major vessel dilation and cause aortic or mitral insufficiency

Intraoperative management

Monitoring:
  • Arterial lines run the risk of vascular wall dissection. Consider ultrasound-guided arterial line placements
  • EDS patients can often demonstrate orthostatic tachycardia syndrome (POTS)
Positioning:
  • Eyes should be protected to prevent retinal detachment and globe rupture
  • Careful padding of extremities
Skin Fragility
  • Minor forces can result in skin injuries such as tape, stickers, and other monitors that attach to the patient
  • Bruising and hematoma formation occurs with repetitive non-invasive BP monitoring
  • Special attention to removing tape from eyes and skin
  • Discuss the risk/benefits of using a tourniquet in these patients with surgical team
Airway Management:
  • Care should be taken for TMJ joint laxity during laryngoscopy
  • EDS patients may present with occipitalatlantoaxial instability causing TMJ joint dislocation

Postoperative management

  • Early mobilization is helpful to prevent muscle loss
  • Inspect surgical sites for hematomas or bleeding
  • Patients with POTS should be monitored early after surgery for bleeding and cardiovascular instability
  • Treat PONV aggressively to avoid esophageal rupture from violent vomiting
  • EDS patients can have pneumothorax after positive pressure ventilation
  • EDS patients with epidurals have greater risk for PDPH and epidural hematoma formation

Obstetric Considerations

  • EDS patients are considered high-risk and should have maternal-fetal-medicine specialist consultations
  • Prone to premature rupture of membranes, preterm labor, and uterine/vascular ruptures[1]
  • Labor and delivery may progress very rapidly in the hypermobile form of EDS
  • Patients may have significant kyphoscoliosis, making neuraxial anesthesia challenging although not contraindicated
  • Use caution or avoid neuraxial approaches in patients with vascular EDS
    • Remifentanil PCA may be a good alternative for these patients
  • EDS patients have greater rates of post-dural puncture headaches because of underlying tissue fragility
    • Some EDS patients have spontaneous dural ruptures causing PDPH-symptoms without iatrogenic insult to the dura

Related surgical procedures

Pathophysiology

Mutations to genes that code for fibrillar collagen proteins in connective tissue

Their are six major subtypes ranging phenotypically from very mild to life-threatening phenotypes.[2][3]

Signs and symptoms

  • Joint hypermobility/instability
  • kyphoscoliosis
  • Skin fragility
  • Aortic root dilatation causing aortic insufficiency

Diagnosis

Treatment

No treatments currently exist

Medication

Incidence is low and hence lacks randomized drug trials

Drug therapy will be protected under Orphan Drug development policies

Surgery

Prognosis

Epidemiology

References

  1. Levy, Howard P. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Hypermobile Ehlers-Danlos Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301456, retrieved 2021-07-03
  2. Parapia, Liakat A.; Jackson, Carolyn (2008-04). "Ehlers-Danlos syndrome--a historical review". British Journal of Haematology. 141 (1): 32–35. doi:10.1111/j.1365-2141.2008.06994.x. ISSN 1365-2141. PMID 18324963. Check date values in: |date= (help)
  3. Wiesmann, Thomas; Castori, Marco; Malfait, Fransiska; Wulf, Hinnerk (2014-07-23). "Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)". Orphanet Journal of Rare Diseases. 9 (1): 109. doi:10.1186/s13023-014-0109-5. ISSN 1750-1172. PMC 4223622. PMID 25053156.CS1 maint: PMC format (link)