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Ehlers-Danlos syndrome
Definition
Ehlers-Danlos syndrome (EDS) 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 and at least five minor types of Ehlers-Danlos syndrome.
A variety of gene mutations (changes) cause problems with collagen. This is the material that provides strength and structure to skin, bone, blood vessels, and internal organs.
The abnormal collagen leads to the symptoms associated with EDS. In some forms of the condition this can include rupture of internal organs or abnormal heart valves.
Family history is a risk factor in some cases.
Symptoms
Symptoms of EDS include:
- Back pain
- Double-jointedness
- Easily damaged, bruised, and stretchy skin
- Easy scarring and poor wound healing
- Flat feet
- Increased joint mobility, joints popping, early arthritis
- Joint dislocation
- Joint pain
- Premature rupture of membranes during pregnancy
- Very soft and velvety skin
- Vision problems
Exams and Tests
Examination by the health care provider may show:
- Deformed surface of the eye (cornea)
- Excess joint laxity and joint hypermobility
- Mitral valve prolapse
- Periodontitis
- Rupture of intestines, uterus, or eyeball (seen only in vascular EDS, which is rare)
- Soft, thin, or very stretchy (hyperextensible) skin
Tests performed to diagnose EDS include:
- Collagen typing (performed on a skin biopsy sample)
- Collagen gene mutation testing
- Echocardiogram (heart ultrasound)
- Lysyl hydroxylase or oxidase activity
Treatment
There is no specific cure for Ehlers-Danlos syndrome. Individual problems and symptoms are evaluated and cared for appropriately. Physical therapy or evaluation by a doctor specializing in rehabilitation medicine is often needed.
Outlook (Prognosis)
People with EDS generally have a normal life span. Intelligence is normal.
Those with the rare vascular type of EDS are at greater risk of rupture of a major organ or blood vessel. These individuals, therefore, have a high risk of sudden death.
Possible Complications
Possible complications of Ehlers-Danlos syndrome include:
- Chronic joint pain
- Early-onset arthritis
- Failure of surgical wounds to close (or stitches tear out)
- Premature rupture of membranes during pregnancy
- Rupture of major vessels, including a ruptured aortic aneurysm (only in vascular EDS)
- Rupture of a hollow organ such as the uterus or bowel (only in vascular EDS)
- Rupture of the eyeball
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 start a family.
Call for an appointment with your health care provider if you or your child have symptoms of EDS.
Prevention
Genetic counseling is recommended for prospective parents with a family history of Ehlers-Danlos syndrome. Those planning to start a family should be aware of the type of EDS they have and its mode of inheritance (how it is passed down to children). This can be determined through testing and evaluation suggested by your health care provider or genetic counselor.
Identifying any significant health risks may help prevent severe complications by vigilant screening and lifestyle alterations.
References
Krakow D. Heritable diseases of connective tissue. In: Firestein GS, Budd RC,Gabriel SE, et al, eds. Kelley's Textbook of Rheumatology. 9th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 105.
Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 268.
Reviewed By: Jatin M. Vyas, MD, PhD, Assistant Professor in Medicine, Harvard Medical School; Assistant in Medicine, Division of Infectious Disease, Department of Medicine, Massachusetts General Hospital. Also reviewed by A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, David R. Eltz, Stephanie Slon, and Nissi Wang.
