Le Ehlers-Danlos syndrome is a group of genetic diseases characterized by a connective tissue abnormality, that is, supporting tissues.  

There are different variants of the disease¹, most have a hyperlaxity of the joints, the very elastic skin and fragile blood vessels. The syndrome does not affect intellectual abilities.

Causes

Ehlers-Danlos syndrome is a genetic disorder that affects the production of collagen, a protein that gives elasticity and strength to connective tissues such as skin, tendons, ligaments, as well as the walls of organs and organs. blood vessels. Mutations in different genes (for example ADAMTS2, COL1A1, COL1A2, COL3A1) would be responsible for the varying symptoms according to the different forms of the disease.

Most forms of Ehlers-Danlos syndrome (EDS) are inherited by autosomal dominant conditions. A parent carrying the mutation responsible for the disease therefore has a 50% chance of transmitting the disease to each of their children. Some cases also appear by spontaneous mutations.

Complications

Most people with Ehlers-Danlos syndrome lead relatively normal lives, although they have restrictions on physical activities. Complications depend on the type of ADS involved.

• benefits scars important.
• benefits chronic joint pain.
• Early arthritis.
• Un aging premature due to sun exposure.
• Osteoporosis.

People with vascular-type EDS (type IV SED) are at risk for more serious complications, such as rupturing of important blood vessels or organs such as the intestine or uterus. These complications can be fatal.

Prevalence

The prevalence of all forms of Ehlers-Danlos syndrome worldwide is approximately 1 in 5000 people. type hypermobile, the most common, is estimated at 1 in 10, while the vascular type, rarer, is present in 1 in 250 cases. The disease seems to affect both women and men.