Ehlers-Danlos syndrome (EDS) is the name given to a group of genetic conditions that affect the connective tissues. Mutations in several different genes have been identified in EDS patients, although in some cases the genetic cause is unknown.
Based on the type of EDS and the severity of the conditions, symptoms can vary from patient to patient. Frequently reported symptoms involve problems with connective tissues in the joints and skin. They are summarized here.
Stretchy and fragile skin
Connective tissues in the skin maintain its elasticity. In patients with EDS, the connective tissue is damaged, which makes the skin stretchy and very soft and velvety.
Patients with EDS may also have skin that bruises easily and heals very slowly. Fragile skin may cause complications in the wound-healing process and may require stitching because the skin might not be strong enough to heal by itself.
Overly flexible joints
The connective tissue in the joints is essential in maintaining their range of motion. Any damage to the connective tissue may loosen the joints, causing them to move past the normal range of motion. This may lead to joint pain and dislocations.
There are several different types of EDS, and additional symptoms may be associated with each type. These include:
- Digestive problems, such as constipation
- Bladder issues, such as incontinence
- Heart and lung problems
- Chronic muscle pain and fatigue
- Unusual facial features such as thin nose and lips and small earlobes
- Increased movement (hypermobility) in the fingers and toes
- Varicose veins
- Short stature
- Scoliosis or abnormal sideways curvature of the spine
- Fragile eyes
- Dental problems and gum infections, known as periodontitis
Depending on symptom severity, patients may sometimes develop serious complications such as early-onset arthritis due to overly flexible joints, weakening of the blood vessels of the heart, fatal rupture of blood vessels, and of organs such as the intestine and uterus.
Last updated: Oct. 13, 2019
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 healthcare providers 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.