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.
Clinical manifestations 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 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.
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.
The two known inheritance patterns for EDS include autosomal dominant and autosomal recessive. Regardless of the inheritance pattern, we have no choice in which genes we pass on to our children.
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 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.
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.