Ehlers-Danlos syndrome, Classic type (type I)

Some forms of Ehlers-Danlos syndrome are caused by changes (mutations) in certain genes that are inherited in an autosomal dominant manner. In autosomal dominant inheritance, only one nonworking copy of a gene needs to be passed on from one parent. Therefore, only one parent needs to be a carrier for an autosomal dominant form of EDS. The risk of passing an altered gene through autosomal dominant inheritance is 50% for each pregnancy. This is true regardless if the child is a boy or girl.

Sometimes an autosomal dominant disorder can occur even if neither parent has an altered gene. This happens when there is a new or ‘de novo’ mutation in a gene that occurs spontaneously. It may also be called a sporadic mutation. This gene change occurs at the time of the formation of the egg or sperm for that child only. Other family members will not have the disorder, and other children will not of these parents will not have EDS.

For many years, the different forms of Ehlers-Danlos syndrome (EDS) were classified with Roman numbers. EDS type I, EDS type II and eventually reaching EDS type XII. A more straightforward classification system was created that broke down EDS into six major subtypes and several other, very rare subtypes. Sometimes, doctors, people or medical literature uses the old classification with Roman numerals, which can be confusing. The Ehlers-Danlos Society has a list of the various subtypes of EDS.

Ehlers-Danlos syndrome (EDS) is considered an invisible disorder. An invisible disorder is a chronic illness that can affect a person’s daily life, but might not be obvious to people unfamiliar with the disorder. EDS can significantly affect the day-to-day activities of a person. Chronic pain and fatigue are very common. However, to an onlooker people with EDS appear healthy. Elastic skin and loose joints are not obvious to most people. Even after explaining EDS to someone that person may state, "But you don't look sick." People with EDS are encouraged to contact others with the disorder to talk about how to best handle these situations and how to best share with people that they have a chronic illness. Support groups, including the Ehlers-Danlos Society, are trying to increase awareness of the disorder so EDS is less of an invisible disorder. These groups also provide advice on how to deal with living with an invisible illness.

Children and adults with Ehlers-Danlos syndrome (EDS) should talk to their doctors and entire medical team before participating in sports or similar activities. Most medical sources strongly recommend against people with EDS participating in contact sports, especially people with EDS, vascular type or moderate or severe forms of other types of EDS. Low impact sports like swimming are encouraged to build muscle strength. People who do choose to participate in sports should take careful precautions including protecting themselves with pads or braces.

Some individuals with Ehlers-Danlos syndrome also have another disorder called postural tachycardia syndrome (POTS). POTS is a form of dysautonomia, or malfunction of the autonomic nervous system. The autonomic nervous system controls functions of the body that are done without people thinking about them. This includes blood pressure, digestion, kidney function, and heart rate. In people with POTS, the heart rate is greater than 30 beats per minute that occurs with 10 minutes of the person standing up. Sometimes, the heart rate can be greater than 120 beats for minute. People can be lightheaded, weak, tremble, and have blurry vision. They may not be able to tolerate exercise, and have fluctuations in body temperature. Doctors don’t know what causes POTS and do not understand why some people with EDS are more likely to have POTS.

Talk to your doctor and medical team to learn more about POTS. Support groups for dysautonomia, like Dysautonomia International, will have more information about POTS.

Family planning is essential for anyone with Ehlers-Danlos syndrome who is thinking of having children. There can be risks for the mother and child, particularly in EDS, vascular type. Women with the vascular type of EDS are at risk for bleeding from the arteries or the rupture of the uterus during pregnancy. Vaginal tearing can also occur. They should be followed by medical professionals who are experienced at dealing with 'high risk' pregnancies.

There may also be complications in EDS, classic type. The risk of the baby being born premature is greater in women with the classic type than in women who do not have EDS. If a baby has low muscle tone (hypotonia), there is a greater risk of them being in the breech position. This could cause the newborn’s hips or shoulders to pop out of place (dislocate) during birth.

It is very important that women with EDS talk to their obstetricians & gynecologists as well as their regular doctor and medical team when consider becoming pregnant. Talking to a medical geneticist and a genetic counselor is also strongly recommended.

Some forms of Ehlers-Danlos syndrome (EDS) can cause problems with a person’s teeth and gums. Sometimes, the gums and the mucous membrane that lines the inside of the mouth are fragile and can tear easily. People with the vascular type of EDS can have gum disease and receding gums. A specific, very rare form of EDS call the periodontitis type (formerly called EDS type VIII) can cause disease of the gums and the tissue that surrounds and supports the teeth, often causing the teeth to fall out. Other symptoms have been described in EDS including teeth that are crowded together or hardening of the pulp tissue of the teeth. The pulp is the tissue in center of the tooth made up of connective tissue.

Patients should talk to their doctor and medical team about the potential of dental and oral problems with EDS. Patients should be seen by a dental professional experienced in treating these complications in people with EDS.

Not everyone who has Ehlers-Danlos syndrome (EDS) is at risk of heart problems or tearing or rupturing of blood vessels or organs. These complications are very serious and potentially life-threatening. The risk is greatest in people with the EDS, vascular type. To a lesser degree, people with the classic type or the kyphoscoliosis type have risk of these conditions. Patients should talk to their doctors and medical team about their specific situations so that the doctors can develop a plan to monitor their health based on their age and specific circumstances. People who are at risk for these cardiovascular problems are encouraged to carry something with them at all times that documents their diagnosis such as a MedicAlert bracelet.

Sometimes, Ehlers-Danlos syndrome (EDS) can affect the eyes. Certain subtypes are more likely to be associated with eye problems than other subtypes. Keratoconus has been reported in EDS, vascular type. Keratoconus affects the cornea, which becomes progressively thinner and irregularly-shaped. It can cause blurry vision, a sensitivity to light or glare, and other problems. A condition called carotid cavernous sinus fistula can occur in EDS, vascular type. This is an abnormal connection (passageway) between the internal or external carotid artery and the cavernous sinus, a cavity near the base of the brain. This can cause blurred vision, double vision, eye pain, and swelling of the conjunctiva, or the membrane that lines the eyes. Carotid cavernous fistula requires immediate medical intervention.

Some individuals with EDS, kyphoscoliosis type will have a small cornea, the transparent layer in front of the eyes, bluish discoloration of the sclera (the whites of the eyes), and a severe form of nearsightedness called high myopia, which can increase the risk of retinal detachment or glaucoma. The eyes may be fragile and minor trauma can cause rupturing of the sclera or cornea, or detachment of the retina.

High myopia and degeneration of the clear, gel-like substance in the eye (vitreous degeneration) can occur in people with EDS, hypermobility type.

People with EDS who are concerned about potential eye complications of the disorder should talk to an eye doctor who is experienced in treating these complications in people with EDS.

Yes. People with Ehlers-Danlos syndrome (EDS) are more likely to get temporomandibular joint disease, or TMJ, than people who do not have the disorder. EDS is caused by problem in creating or processing collagen, the major structural protein in the body. This affects the connective tissue, which is the tissue that connects, supports, binds, or separates other tissues or organs. Sometimes, the neck and jaw are affected and people may get TMJ, which primarily affects the joints of the jaws. It can cause chronic, severe headaches and significant pain. The temporomandibular joint, which connects the jaws to the skull, can pop out of place (dislocate) and extremely painful condition.

Patients should talk to their doctors and entire medical team about TMJ and EDS. It's best to seek referral to a specialist who is experienced in treating TMJ in people with EDS.

The medical cost of Ehlers-Danlos syndrome (EDS) can be significant. Some families lack the resources necessary to provide for a chronically ill child. There are several organizations that provide financial assistance.

The Social Security Administration provides disability benefits for people who qualify. EDS is not listed in the publication called the Disability Evaluation Under Social Security, also called the “Blue Book.” However, people with EDS may still qualify for assistance if they have certain symptoms that qualify.

The National Organization for Rare Disorders has links to organizations that can provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

Children with Ehlers-Danlos syndrome (EDS) may need special accommodations in school. They are eligible for an individual education plan (IEP) or a 504 plan. An IEP is a document that helps to guide the education of a child with a disability or special needs. The plan is individualized for each student. A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children. Parents are encouraged to provide a school with a packet of information on EDS and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals.

The U.S. Department of Education has information on individual education plans and on 504 plans. The Ehlers-Danlos Society also provides An Educator’s Guide to help children with EDS succeed at school.

People with Ehlers-Danlos syndrome (EDS) are at an increased risk of being diagnosed with a psychiatric disorder such as depression or anxiety. Behavioral and psychological therapy may be beneficial in helping people cope with chronic illness and chronic pain. An evaluation by a psychiatrist or other mental health professional is recommended for anyone experiencing psychiatric symptoms. Talk to your or your child’s doctor for a recommendation. Organizations like the National Alliance for Mental Illness (NAMI) or the National Institute of Mental Health can provide information and support as well.

A child with Ehlers-Danlos syndrome (EDS) can demand a lot of time and focus from parents. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy and anger and high levels of anxiety. It is possible for healthy siblings to feel as if they have been pushed aside when parents focus more of their efforts on their child with a chronic illness. Parents should encourage healthy siblings to discuss their concerns and feelings about living with a sibling with a chronic illness. It is important for parents to acknowledge and address these concerns with their healthy children. Healthy siblings can feel more included in the family structure when they help with the care of their sick sibling. Parents are encouraged to make time for activities specifically for healthy siblings. Some siblings may benefit from support outside of the immediate family, such as meeting with a therapist.

The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs. There are also regional support groups for siblings of children with serious health conditions. Your child's pediatrician or your local hospital may be able to tell you if this type of support group is available in your area.

The skin in Ehlers-Danlos syndrome (EDS) is assessed through a physical examination. A doctor will pull the skin up, away from the body until there is resistance. Most people with EDS have skin that stretches farther than normal. The skin will snap back into place when the doctor lets go. There are similar disorders to EDS in which the skin stretches in the same way, but does not snap back.

Talk to your doctor about this examination if you have questions. If you have skin that stretches farther than normal, let your doctors know so they can decide whether testing is appropriate in your situation.

It is very difficult to make general statements about symptoms of Ehlers-Danlos syndrome (EDS). EDS is a group of several, related disorders, but these disorders are different. Also, people with the same subtype of EDS and even people in the same family can have very different symptoms. All of the symptoms you read about occurring in EDS will not apply to individual people. Every person is unique and the way the disorder will appear and progress will be unique as well.

People with EDS are encouraged to talk to their physician and medical team about their diagnosis and their prognosis. A genetic counselor or metabolic geneticist can provide information on your specific genetic changes and how they related to your EDS diagnosis. A listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

The gene or genes that cause Ehlers-Danlos syndrome (EDS), hypermobility type are unknown. Researchers are trying to find out which gene or genes cause the disorder.

Special care needs to be taken for people with Ehlers-Danlos syndrome (EDS) when they have surgery, including dental procedures. Because they have fragile skin and injury or surgical incision is at risk of tearing during or after surgery. Special consideration and care is required before, during and after surgery. People with EDS should talk to doctor and medical team to ensure that appropriate plans and cautions have been made before undergoing any surgical procedure.