Ehlers-Danos syndrome is a group of inherited disorders characterized by excessive looseness (laxity) of the joints, hyperelastic skin that is fragile and bruises easily, and/or easily damaged blood vessels. The syndrome sometimes involves rupture of internal organs.
Causes, incidence, and risk factors
Ehlers-Danlos syndrome (EDS) can occur in different forms - involving vessels, skin, and/or joints - with a variety of different genetic defects as their cause.
Different forms of EDS have different modes of inheritance. Family history is a risk factor in some cases.
- Joint dislocation or subluxation
- Joint pain
- Increased joint mobility, joints popping, early arthritis
- Double-jointedness, flat feet
- Easily damaged, bruised, and stretchy skin
- Very soft and velvety skin
- Easy scarring and poor wound healing
- Premature rupture of membranes at birth
- Visual difficulties
Signs and tests
Examination by the health care provider may show:
- Excess joint laxity and joint hypermobility
- Soft, thin, or hyperextensible skin
- Mitral valve prolapse
- Signs of platelet aggregation failure (platelets do not clump together properly)
- Rupture of intestines, uterus, or eyeball (seen only in vascular EDS, which is rare)
- Deformed cornea
- Collagen typing (performed on a skin biopsy sample)
- Collagen gene mutation testing
- Lysyl hydroxylase or oxidase activity
- Echocardiogram (heart ultrasound)
There is no specific cure for Ehlers-Danlos syndrome, so individual problems and symptoms must be evaluated and cared for appropriately. Frequently, physical therapy or evaluation by a physician specializing in rehabilitation medicine is needed.
Ehlers-Danlos National Foundation
6399 Wilshire Blvd. Suite 200
Los Angeles, CA 90048
People with EDS generally have a normal life span. Intelligence is normal.
Patients with the rare vascular type of EDS are at significantly increased risk for rupture of a major organ or blood vessel. These patients therefore have a high risk of sudden death.
- Failure of surgical wounds to close (or stitches tear out)
- Chronic joint pain
- Early-onset arthritis
- Rupture of major vessels, including a ruptured aortic aneurysm (only in vascular EDS)
- Rupture of a hollow organ such as uterus or bowel (only in vascular EDS)
- 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 to conceive a child.
Call for an appointment with your health care provider if you or your child have symptoms of Ehlers-Danlos syndrome.
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.
by Potos A. Aagen, M.D.
All ArmMed Media material is provided for information only and is neither advice nor a substitute for proper medical care. Consult a qualified healthcare professional who understands your particular history for individual concerns.