Ehlers-Danlos Syndrome

 Ehlers-Danlos syndrome is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels, and other organs. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn't strong enough to hold them. Worldwide, more than 1.5 million people are diagnosed with Ehlers-Danlos syndrome (EDS). EDS (all types combined) is reported to have a 1 in 5,000-10,000 population frequency.

The major signs and symptoms are of 4 types: Musculoskeletal, Skin, Cardiovascular, Other manifestations or complicationsThe musculoskeletal symptoms are: Hyper-flexible joints, Thoracic outlet syndrome, Boutonniere deformity of the fingers, Unstable joints, Swan neck deformity, Tearing of tendons or muscles, Spine deformities, Myalgia and Arthralgia, Osgood-Schlatter Disease.Skin symptoms are: Fragile skin that tears easily, Easy bruising, Redundant skin folds, Molluscoid pseudotumors, Subcutaneous spheroids, Livedo reticularis. The cardiovascular symptoms are: Arterial rupture, Valvular heart disease, Dilation and/or rupture of ascending aorta, Postural orthostatic tachycardia syndrome, Raynaud's phenomenon, Varicose veins.

Recombinant factor VIIa has been used to help control surgical bleeding, but experience is limited and the usual surgical precautions for patients with EDS should be followed. Desmopressin may also be effective in reducing bleeding time, but the safety and efficacy of desmopressin in the prevention and treatment of bleeding in EDS remains to be established. Surgery may be indicated to correct fractures and stabilize dislocated joints. Surgical teams caring for patients with Ehlers-Danlos syndrome (EDS) need to be informed of any history of vascular or bleeding problems and will preferentially use staples or tape (rather than stitches) for wound closure. Consultation with an ophthalmologist may be necessary. Patients with Ehlers-Danlos syndrome (EDS) should be screened for myopia, retinal tears, and keratoconus.