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. The major signs and symptoms are of 4 types: Musculoskeletal, Skin, Cardiovascular, Other manifestations or complications The 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. Some other manifestations: Hiatial hernia, Anal prolapse, Collapsed lung (pneumothorax) Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy), Insensitivity to local anesthetics, Arnold–Chiari malformation (brain disorder), Platelet aggregation failure (platelets do not clump together properly), Pregnancy complications: increased pain, mild to moderate peripartum bleeding, cervical insufficiency, uterine tearing, or premature rupture of membranes, Sleep apnea.

Other forms of the condition may exist, but they have been reported only in single families or are not well characterized. 1 per 250,000 people suffer from the vascular type of Ehlers-Danlos syndrome.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.