Ehlers-Danlos Syndrome

EDS has an overall incidence of 1:10,000-25,000, with no ethnic predisposition.

Six major subtypes, each with slightly different and unique phenotypes.

Symptoms involve skin, ligaments, joints, and vessels.

Valvular abnormalities or major vessel dissection/aneurysm

Unstoppable bleeding

Pneumothorax from positive pressure ventilation or pneumoperitoneum

Neuropathy or musculoskeletal injury from positioning

Airway difficulty from atlanto-occipital instability

Musculoskeletal injury from positioning.

Airway damage due to repeat intubations.

TMJ luxation from intubation or mask ventilation.

Postural orthostatic tachycardia syndrome possible in EDS; thus preop crystalloid and early use of vasopressors recommended.

Initiate preop crossmatching of RBCs and use of cell-saver for major surgery. DDAVP improves bleeding time and transfusion requirement.

Use ultrasound when performing central lines or arterials lines to avoid vessel dissection.

Generally avoid neuraxial blockade due to risk of bleeding.

EDS I, EDS II, and hypermobile type (EDS III) is found in 90% of cases.

Vascular type (EDS IV) is found in 3–10% cases.

Kyphoscoliotic (EDS VI), arthrochalasis (EDS VIIA/B), and dermatosparaxis (EDS VIIC) types are rare cases. Principal clinical features include tissue fragility, easy bruising, skin hyperextensibility, delayed wound healing, joint hypermobility, and atrophic scarring.

Initial manifestation is usually easy bruising. Bleeding from gums after brushing or bleeding after minor trauma is common.

Platelet count or bleeding time is normal, yet a Rumpel-Leede test may be positive.

Cardiac manifestations include arterial aneurysms, arterial rupture, varicose veins, aortic regurgitation, mitral valve prolapse, or conduction disturbances.

Other important manifestations include pneumothorax, diverticula of intestine, megaesophagus, or megacolon.

EDS types I and II notably present with very soft, fragile skin.

Frequent joint dislocations happen at shoulder, hip, and patella, typically with EDS III.

EDS IV has the most severe presentation and only forms with increased risk of death due to cardiac pathology.

EDS VI is recognized by kyphoscoliosis, muscle hypotonia, and joint hypermobility.

Arthrochalasia type (EDS VII A/B) presents with joint hypermobility and congenital bilateral hip dislocation.

Dermatosparaxis type (EDS VII C) presents with severe bruising, extreme skin fragility, large fontanels, and short stature.

Mutation in gene encoding for fibrillar collagen proteins or enzymes can be involved in modifications of these proteins.

Type I collagen is the predominant type in body. Mutation in type I results in EDS VIIA/B. Mutation in type V collagen that is coexpressed with type I results in EDS I/II.