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The facts presented on this page were compiled as of October 2000 from the
national headquarters of the Ehlers-Danlos National Foundation in Los Angeles,
California by Darlene A. Clarke, RN, MSN; Karen Skrocki Czerpak, RN; & Linda
Newmann-Potash, RN, MN.
There are six major types of EDS. The different types of EDS are classified
according to their manifestations of signs and symptoms. Individuals with EDS
have a defect in their connective tissue, the tissue which provides support to
many body parts, such as the skin, muscles, and ligaments. The fragile skin and
unstable joints found in EDS are the result of faulty collagen. Collagen is a
protein which acts as a "glue" in the body, adding strength and elasticity
to connective tissue.
SYMPTOMS
Symptoms of EDS are most often skin and joint related and may include:
SKIN: soft velvet-like skin; variable skin hyperextensibility; fragile skin that
tears or bruises easily (bruising may be severe); severe scarring; slow and poor
wound healing; development of fleshy lesions associated with scars over pressure
areas.
JOINTS: joint hypermobility; loose;unstable joints which are prone to
frequent dislocations and/or subluxations; joint pain, hyperextensible joints
(they move beyond the joint's normal range); early onset of osteoarthritis.
MISCELLANEOUS/LESS COMMON: chronic, early onset, debilitating musculoskeletal
pain (usually associated with the Hypermobility Type); arterial/intestinal/uterine
fragility or rupture (usally associated with the Vascular Type); Scoliosis at
birth and scleral fragility (associated with the Kyphoscoliosis Type); poor muscle
tone (associated with the Arthrochalasia Type; mitral valve prolapse; and gum
disease.
HOW IS EDS DIAGNOSED
Diagnosis of EDS is based upon clinical findings and upon the family history.
Since many patients do not fit neatly into one of the specific types of EDS, a
diagnosis is often delayed or overlooked. Specific diagnostic tests are available
for some types of EDS in which there is a know biochemical defect. Sometimes,
a physician may perform a skin biopsy to study the chemical makeup of the connective
tissue. The biopsy involves removing a small piece of skin, under local anesthesia.
Physicians who are able to diagnose EDS may include medical geneticists, pediatricians,
rheumatologists, dermatologists, and orthopaedists.
TREATMENT/MANAGEMENT OF EDS
The gaping skin wounds, which are common in several types of EDS, should
be approached with care. Proper repair of these wounds is necessary to prevent
cosmetic disfigurement. Surgical procedures can be risky, as fragile tissues can
unecpectedly tear. Suturing may present problems for the same reason. Excessive
sun exposure should be avoided by the daily use of sunscreen. ONe should avoid
activities that cause the joint to lock or overextend.
A physician may prescribe bracing to stabilize joints. Surgical repair of joints
may be necessary at some time. Physicians may also consult a physical and/or occupational
therapist to help strengthen muscles and to teach people how to properly use and
preserve their joints. To decrease brusing and improving wound healing, some patients
have responded to ascorbic acid (vitamin C) by taking 1 to 4 grams daily. Prior
to starting a regimen such as this, it is imperative to consult with your physician
for specific recommendations.
In general, medical intervention is limited to symptomatic therapy. Prior to
pregnancy, patients with EDS should have genetic counseling. Children with EDS
should be provided with information about the disorder, so they can understand
why contact sports and other physically stressful activities should be avoided.
Children should be taugh early on that demonstrating the unusual positions thay
can maintain due to loose joints should not be done as this may cause early degeneration
of the joints. Family members, teachers, and friends should be provided with information
about EDS so they can accept and assist the child as necessary.
PROGNOSIS
The prognosis of EDS depends on the specific type. Life expectancy can be
shortened with the Vascular Type of EDS due to the possibility of organ and vessel
rupture. Life expectancy in the other types is normal.
For more information, visit the National EDNF
headquartered in Los Angeles CA
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