Ehlers-Danlos syndrome
Key points
- 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.
- 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.
- There is no specific cure for Ehlers-Danlos syndrome, so individual problems and symptoms must be evaluated and cared for appropriately.
- Ehlers-Danlos National Foundation 6399 Wilshire Blvd.
Definition
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.
Symptoms
- 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
- 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.
Support Groups
Ehlers-Danlos National Foundation6399 Wilshire Blvd. Suite 200Los Angeles, CA 90048www.ednf.org
Written and revised by
Andrey Nailor, M.D.
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