An inherited disorder characterized by excessive looseness (laxity) of the joints, hyperelastic skin that is fragile and bruises easily, easily damaged blood vessels and rarely, rupture on internal organs.
Causes, incidence, and risk factors
Ehlers-Danlos syndrome involves abnormal formation of connective tissue. This condition, occurs in different forms, most of which result from defects in different genes. Symptoms range from mild to severe.
Signs and tests
Examination by the health care provider may show: Excess joint laxity and joint hypermobility Soft, thin or hyperextensible skin Mitral valve prolapsePeriodontitis Occipital exostoses (growths on the back of the head)
Signs of platelet aggregation failure ( platelets do not "clump together" properly)
Rupture of intestines, uterus, lungs or eyeball Deformed cornea Tests:
Collagen typing Pyridinoline crosslink level in urine Serum copper and ceruloplasmin level Collagen gene mutation testing Lysyl hydroxylase or oxidase activity Platelet aggregation test
Expectations (prognosis)
People with Ehlers-Danlos generally have a normal life span. Intelligence is normal. The rare person with vascular type of Ehlers-Danlos is at significantly increased risk for rupture of a major organ or blood vessel and therefore of sudden death.
Complications
Failure of surgical wounds to close or stitches tear out
Early onset arthritis Rupture of major vessels, including a ruptured aortic aneurysm
Rupture of a hollow organ such as uterus, lung or bowel Rupture of the eyeball Premature rupture of membranes during pregnancy
Calling your health care provider
Call for an appointment with your health care provider if you have a family history of Ehlers-Danlos syndrome and are planning on having a child. Call for an appointment with your health care provider if you or your child have symptoms suggesting Ehlers-Danlos syndrome.
Prevention
Genetic counseling is recommended for prospective parents with a family history of Ehlers-Danlos syndrome. Affected parents should be aware of the type of Ehlers-Danlos syndrome they have and its mode of inheritance . This may be determined through testing and evaluation suggested by your health care provider or genetic counselor.