Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome is a whole group of genetically determined congenital diseases associated with connective tissue disorders. They occur in about one person in 5,000.

Causes

The condition is caused by mutation in a gene that is important for the proper function of the connective tissue. We distinguish particular subtypes of the syndrome according to the affected gene, but this is not important for general understanding.

Symptoms

Due to disorder of the connective tissue, ligaments are too loose and they are not able to stabilize the joints. Therefore, there is an excessive flexibility of the fingers on both the upper and lower extremities. The joints are unstable and prone to dislocation. Given that the production of the connective tissue influences the wound healing, the wound healing is slower or it is related to formation of abnormal keloid scars.

 

People with Ehlers-Danlos syndrome frequently suffer from valvular heart disease, their heart valves tend to be insufficient. The walls of the blood vessels are less strong and more susceptible to effects of the blood pressure, which can cause occurrence of aneurysms, typically the aortic aneurysm. Rupture of such aneurysm is usually a life-threatening condition. Women with Ehlers-Danlos syndrome have risky pregnancy as there is increased possibility of bleeding or rupture of the enlarged uterus.

Diagnosis

The condition can be confirmed only by genetic testing which finds mutation of a certain gene.

Prevention and treatment

Ehlers-Danlos syndrome is a congenital disease and therefore, there is no prevention and no cure. Joint disorders are treated by orthopedists (solving dislocated joints, prescription of devices to stabilize joints, rehabilitation, etc.). The stability of blood vessel walls can be increased by regular adequate intake of vitamin C, but its effect is far from miraculous. Heart or vascular disorders are treated by cardiologists, angiologists and surgeons.