Ehlers-Danlos syndrome (EDS) is the name given to a group of connective tissue disorders characterized by a collagen deficiency that decreases the strength of ligaments, tendons, muscles, skin, and blood vessels.

EDS affects many systems of the body at once. As a result, EDS patients experience many different symptoms, and dealing with all of them can be a challenge.

Like many rare diseases, the biology of EDS is not well understood. The diagnosis is a challenge, and it can take many years until the correct  diagnosis is reached.

Living with EDS can be a difficult, but many patients learn how to control and cope with the symptoms over time even without a diagnosis.

Genetic counseling

A genetic test usually is done to confirm the diagnosis of EDS. It can be useful to seek advice from a genetic counselor to understand the results of the test. A genetic counselor also can help patients make informed decisions about family planning, fertility, and tests during pregnancy.

Fertility and pregnancy

The incidence of infertility is reported to be 43.3% in people with EDS, but this depends on the type and severity of the disease.

Women with EDS frequently experience gynecological complications due to the weakness of the connective tissue supporting the reproductive organs. Common symptoms include menorrhagia (heavy menstrual bleeding), dysmenorrhea (menstrual cramps), bleeding between menstruations, pelvic pain, and dyspareunia (painful intercourse).

EDS patients also have a higher risk of miscarriage, ectopic pregnancies (pregnancy outside the uterus), and premature delivery. A cesarean section is usually recommended to reduce additional stress on joints and skin, which may cause post-partum complications.

Schooling

All staff in a school where a pupil has EDS should be made aware that a medical emergency can occur, and they should be informed about actions to take in such a situation. A physiotherapist or occupational therapist can help evaluate the patient’s adaptational needs at school.

Adaptations such as a chair and table with adjustable height, and a chair with arms for upper body support, can make sitting in class more comfortable.

Having two sets of textbooks so that they do not have to be carried back and forth between home and school also can be useful.

EDS patients should be given extra time to get from one class to the next. Choosing a school with elevators also makes it easier to get around the school building.

EDS patients may need a modified physical education class that restricts contact sports and activities that put weight on arms and wrists, such as hand-stands.

Traveling

Traveling should be well-planned to make the trip as comfortable and safe as possible. Patients and their travel companions should be prepared for unexpected incidents.

The accommodation should be selected carefully, ideally in proximity to a doctor’s office. Extra medications should be carried in case something unexpected happens.

It can be useful to take extra pillows and blankets for comfort. At the same time, luggage should be as light as possible. A trekking backpack or suitcase with wheels makes carrying luggage easier.

When traveling by train, it is recommended to make a seat reservation. When traveling by plane, it can be helpful to make use of the free wheelchair service, which most airlines offer.

Aids and adaptations

Wrist and knee splints or braces can provide support for the joints. Also, compression stockings or tights can help stabilize the lower extremities. Shoe inserts provide support for the feet and can increase stability. A walking stick can improve balance while walking. Some EDS patients may need a mobility scooter or a wheelchair to get around.

Ring splints can help prevent finger joint dislocations. They also can facilitate everyday activities, like cooking and writing. Neck braces can be useful for patients who have cervical spine instability.

During the night, joints can quickly move into an uncomfortable position. Supporting the neck and knees with pillows may help keep the joints in an agreeable position. Heating pads may relieve pain and reduce muscle spasms.

 

Last updated: Nov. 5, 2019

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Ehlers-Danlos News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.