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. Ehlers?Danlos syndrome (EDS) is an inherited connective tissue disorder with different presentations that have been classified into several primary types.
Commonly associated with keloid formation, reticular fiber, and found in artery walls, skin, intestines and the uterus?COL3A1.) The collagen in connective tissue helps tissues resist deformation. Collagen is an important contributor to the physical strength of skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen renders these structures more elastic. In some cases, the severity of the mutation can be life-threatening. EDS can have neuromuscular complications including ocular and ophthalmic complications. A more severe form of the disorder, called vascular Ehlers-Danlos syndrome, can cause the walls of your blood vessels, intestines or uterus to rupture. If you have vascular Ehlers-Danlos syndrome, you may want to talk to a genetic counselor before starting a family.
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.