Difference between revisions of "Ehlers-Danlos syndromes"
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Ehlers-Danlos (EDS) is a set of heritable heterogenous connective tissue disorders characterized by defects in collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organ. EDS patients often have vascular fragility syndromes with arterial aneurysms and dissections. Patients also have kyphoscoliosis and due to the 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. | Ehlers-Danlos (EDS) is a set of heritable heterogenous connective tissue disorders characterized by defects in collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organ. EDS patients often have vascular fragility syndromes with arterial aneurysms and dissections. Patients also have kyphoscoliosis and due to the 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<!-- Briefly summarize the anesthetic implications of this comorbidity. -->== | == Anesthetic implications<!-- Briefly summarize the anesthetic implications of this comorbidity. -->== | ||
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==Pathophysiology== | ==Pathophysiology== | ||
Mutations to genes that code for fibrillar collagen proteins in connective tissue | Mutations to genes that code for fibrillar collagen proteins in connective tissue | ||
Their are six manor subtypes ranging phenotypically from very mild to life-threatening phenotypes.<ref>{{Cite journal|last=Parapia|first=Liakat A.|last2=Jackson|first2=Carolyn|date=2008-04|title=Ehlers-Danlos syndrome--a historical review|url=https://pubmed.ncbi.nlm.nih.gov/18324963|journal=British Journal of Haematology|volume=141|issue=1|pages=32–35|doi=10.1111/j.1365-2141.2008.06994.x|issn=1365-2141|pmid=18324963}}</ref><ref>{{Cite journal|last=Wiesmann|first=Thomas|last2=Castori|first2=Marco|last3=Malfait|first3=Fransiska|last4=Wulf|first4=Hinnerk|date=2014-07-23|title=Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)|url=https://doi.org/10.1186/s13023-014-0109-5|journal=Orphanet Journal of Rare Diseases|volume=9|issue=1|pages=109|doi=10.1186/s13023-014-0109-5|issn=1750-1172|pmc=PMC4223622|pmid=25053156}}</ref> | |||
==Signs and symptoms== | ==Signs and symptoms== | ||
Revision as of 07:45, 3 July 2021
Ehlers-Danlos syndromes
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| Anesthetic management |
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Ehlers-Danlos (EDS) is a set of heritable heterogenous connective tissue disorders characterized by defects in collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organ. EDS patients often have vascular fragility syndromes with arterial aneurysms and dissections. Patients also have kyphoscoliosis and due to the 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
- Aortic root dilation may exacerbate aortic insufficiency
- EDS patients can have both aortic and mitral insufficiency
Intraoperative management
Monitoring:
- Arterial lines run the risk of vascular wall dissection. Consider ultrasound placements for EDS patients
- EDS patients can often demonstrate orthostatic tachycardia syndrome (POTS)
Positioning:
- Eyes should be protected to present 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
Related surgical procedures
Pathophysiology
Mutations to genes that code for fibrillar collagen proteins in connective tissue
Their are six manor subtypes ranging phenotypically from very mild to life-threatening phenotypes.[1][2]
Signs and symptoms
Joint hypermobility/instability
kyphoscoliosis
Skin fragility
Aortic root dilitation causing aortic insufficiency
Diagnosis
Treatment
Medication
Surgery
Prognosis
Epidemiology
References
- ↑ 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) - ↑ 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)