|
Compiled By Darlene A. Clarke, R.N., M.S.N., Karen Skrocki Czerpak, R.N. & Linda Neumann-Potash, R.N., M.N. Ehlers-Danlos
syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility,
skin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according
to their manifestations of signs and symptoms. Each type of EDS is a distinct disorder that "runs true" in a family. This
means that an individual with Vascular Type EDS will not have a child with Classical Type EDS. 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
Clinical manifestations of EDS are most often skin and joint related and may include:
Skin: soft velvety skin; variable skin hyperextensibility; fragile skin that tears or bruises easily (bruising
may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudotumors
(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 (usually 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.
Prevalence At this time, research statistics of EDS show the prevalence as 1 in 5,000
to 1 in 10,000. It is known to affect both males and females of all racial and ethnic backgrounds.
Heredity Patterns The two known inheritance patterns for EDS include autosomal dominant
and autosomal recessive. Specifics regarding genetic inheritance may be found in another EDNF informational brochure. Regardless
of the inheritance pattern, we have no choice in which genes we pass on to our children. How
EDS is 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 known 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 and dermatologists. 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 unexpectedly
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 bruising
and improve 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 taught early on that demonstrating
the unusual positions they 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 all other types is normal. Reference: Beighton, P., De Paepe, A., Steinmann,
B., Tsipouras, P., & Wenstrup, R. (in press). Ehlers-Danlos Syndrome: Revised Nosology, Villefranche, 1997. American Journal
of Medical Genetics.
|
