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Ehlers-Danlos syndrome
Definition
Ehlers-Danlos syndrome is a group of inherited disorders marked by extremely loose joints, hyperelastic skin that bruises easily, and easily damaged blood vessels.
Causes
There are six major types of Ehlers-Danlos syndrome (EDS). A variety of different gene problems cause problems with collagen, the material that provides strength and structure to skin and bone tissue, blood vessels, and internal organs. (The syndrome sometimes involves rupture of internal organs.)
Family history is a risk factor in some cases.
Symptoms
- Joint dislocation
- 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
- Vision problems
Exams and Tests
Examination by the health care provider may show:
- Excess joint laxity and joint hypermobility
- Soft, thin, or hyperextensible skin
- Mitral valve prolapse
- Periodontitis
- 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
Tests:
- Collagen typing (performed on a skin biopsy sample)
- Collagen gene mutation testing
- Lysyl hydroxylase or oxidase activity
- Echocardiogram (heart ultrasound)
Treatment
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.
Outlook (Prognosis)
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.
Possible Complications
- 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
When to Contact a Medical Professional
Call for an appointment with your health care provider if you have a family history of Ehlers-Danlos syndrome and you are concerned about your risk or are planning to conceive a child.
Call for an appointment with your health care provider if you or your child has symptoms of 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.
For those who have significant risks to their health, identification of risk may help prevent severe complications by vigilant screening and lifestyle alterations.
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.
