Ehlers-Danlos Syndrome (EDS) is defined by Medline Plus as a group of disorders affecting connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Thus, people with the EDS have soft, velvety skin that is highly stretchy (elastic) and fragile. The signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications, are caused by defects in connective tissues. There are several classifications for the various forms of EDS. Originally, there were 11 different types of EDS but researchers proposed a simpler classification in 1997, which reduced the number of types to six and gave them descriptive names based on their major characteristics. Thereafter, according to the 2017 classification, EDS is classified into 13 types.

Furthermore, Matt Smith of WebMD stated that since EDS is a disease that weakens the connective tissues, such as tendons and ligaments, as a result, your joints are loose and your skin is thin and easily bruised. It can also cause blood vessels and organs to weaken. According to Matt Smith, it is a genetic disorder. It is something you inherit from your parents. You are more likely to have this condition if one of your parents has it which occurs when your body fails to produce a protein called collagen in the proper manner. Collagen aids in the formation of the connections that hold your bones, skin, and organs together. If there is a problem with it, those structures may be weak and more prone to failure.

According to Mayo Clinic, the types of complications you have are determined by the signs and symptoms you have. Overly flexible joints, for example, can lead to joint dislocations and early-onset arthritis. Scarring can appear on fragile skin. People with vascular Ehlers-Danlos syndrome are at risk of major blood vessel ruptures, which can be fatal. Some organs, including the uterus and intestines, may also rupture. Pregnancy can increase the risk of uterine rupture.

The severity of symptoms varies from person to person and is determined by the type of EDS you have. A physical exam is usually used to diagnose EDS. The doctor will measure the range of motion in your knees, elbows, fingers, and waist, and may also pull on your skin to see how far it stretches along with looking for any scars caused by the illness. Once your doctor has determined which type of EDS you have, you can discuss how to manage your symptoms. You may need to see several doctors, including an orthopedist, who specializes in joint and skeleton problems, a dermatologist, who treats skin conditions, and a rheumatologist, who specializes in diseases of connective tissues.

If you have a personal or family history of Ehlers-Danlos Syndrome and are considering starting a family, you should consult with a genetic counselor — a health care professional trained to assess the risk of inherited disorders. Genetic counseling can assist you in understanding the inheritance pattern of the type of EDS that affects you and to your children.

PNFP Marie-Claire Gaas

References:

1. Ehlers-Danlos syndrome

https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/

2. What Is Ehlers-Danlos Syndrome?

By Matt Smith, Medically Reviewed by Jennifer Robinson, MD on February 17, 2021

https://www.webmd.com/a-to-z-guides/ehlers-danlos-syndrome-facts#:~:text=Ehlers%2DDanlos%20syndrome%20(EDS),weaken%20blood%20vessels%20and%20organs.

3. Ehlers-Danlos syndrome

https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125