Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders of connective tissue associated with easy bruising, tearing of the skin, joint hypermobility and, in some instances, bleeding problems.  EDS is caused by abnormal collagen in the body. Collagen is a protein found in connective tissue, one of the main tissues in our body found in skin, bone, cartilage, tendons, ligaments and blood vessels to support many structures in our body.  Normal collagen allows these tissues to maintain normal strength and flexibility.  There are about six types of EDS. EDS is thought to be the most common of the inherited disorders involving the connective tissue, estimated to affect one in 5,000 to 10,000 people.

Symptoms
Many EDS patients do not show symptoms that fit clearly into one type.  The most common symptoms include:

• loose joints
• easy bruising
• abnormal scarring
• increased skin elasticity with easy tearing of the skin and poor wound healing.
• Less common types of EDS can involve bleeding and rupture of internal organs and blood vessels.

How is EDS inherited?
EDS is a genetic condition caused by non-working genes and resulting in abnormal collagen. Genes, the basic unit of heredity, are packaged on chromosomes in each cell of our body.  Humans have 46 chromosomes, arranged in 23 pairs.  Twenty-two of these pairs are called "autosomes," meaning they are the same in men and women. The 23rd pair is the chromosome that determines a person's gender.  Most genes occur in pairs--one member of each pair is inherited from the mother and the other from the father.

Most forms of EDS are either "autosomal dominant" or "autosomal recessive."  In autosomal dominant, only one gene in a pair needs to be non-functioning for an individual to be affected.  A person affected with autosomal dominant EDS has a 50 percent chance to pass on the gene to his or her offspring.  Autosomal dominant traits often vary widely among affected family members. This means that even though several family members may be affected, the severity of their traits may vary. 

A child who has autosomal recessive inheritance EDS has a pair of genes, both of which are non-functioning.

People who have one functioning gene and one non-functioning gene are carriers of the disorder and are healthy. When two carriers have children, each offspring has a one-in-four chance of inheriting two non-functioning genes and having EDS.

Diagnosing EDS
There is no diagnostic test available for EDS for most parents, making a very complete physical examination and detailed family history extremely important.  An exception is a study for Type IV EDS that involves testing for the normal collagen in skin cells through a skin biopsy.

The instability of abnormal collagen can cause joint discomfort for some people with EDS. Pain can become worse with time. Early arthritis is often a complication.  Joint dislocations and the increased range of motion in a joint tend to decrease with age. Problems with strength, fine-motor movement and daily activities can be affected.  Fatigue, muscle weakness and cramping are also common complaints. Complications of EDS in pregnancy are common and can include such things as miscarriage, excessive bleeding, increased bruising, varicose veins, back pain and premature rupture of membranes.

Even though there is no cure for EDS, you can take preventive measures to reduce the effects of the condition.  Having an explanation for your skin, joint and bleeding problems can help you work with your health care providers and can help you make informed decisions about career choices, participation in sports, childbearing and other potentially stressful activities.

Life expectancy is usually not affected by EDS. Those with EDS Type IV may have a shortened life expectancy due to rupture of an internal organ or blood vessel.
 
Lessening the effects of EDS
Prevention is the best way to lessen problems associated with poor skin healing and abnormal scarring.  Keeping your environment as safe as possible is important in reducing injury.  When injuries occur, a combination of taping and suturing may improve healing and reduce abnormal scarring.  Avoid adhesive tapes that can damage your skin.  Using sunscreen is an important preventive measure to reduce damage to the skin.

Joint looseness may require special built-up handles, splinting or bracing.  People with EDS, especially those who are incapacitated, may need to use crutches, a cane, walker or a wheelchair.

Children will need the understanding of parents and teachers as they may feel different when they have to avoid certain sports or activities.  Children should be discouraged from purposely dislocating their loose joints as this can lead to further trauma and early arthritis. Physical education teachers and school nurses need to be aware of the necessity for children with EDS to avoid jumping, as in gymnastics, and contact sports such as football, basketball, soccer and hockey. Additionally, they will need to be monitored for scoliosis, particularly during growing spurts. It may be helpful to ask your doctor to send copies of letters to school officials.

Career changes and subsequent financial strains may cause adults additional stress.  Women of childbearing age should have their pregnancies monitored by a high-risk facility.

Use of medications such as mild pain relievers, vitamins, herbs, muscle relaxants and anti-inflammatories should be discussed with your health care provider.

Who should you see?
Your family doctor should provide your routine health care.  You may wish to also see a specialist who is experienced in working with patients with EDS. Health care providers who routinely see EDS patients can answer your questions, update you on research and suggest ways to minimize the effects of EDS. A genetic counselor can help you understand the inheritance pattern of your particular type of EDS and answer any questions you may have about the genetics of EDS, including the chance of passing on the gene for EDS.

Portions of this information are furnished with permission by the ED National Foundation.