Ehlers-Danlos Syndrome

It is a genetic syndrome in which the skin, joints, and blood vessels are extremely elastic and fragile due to the genetically defective production of collagen, which is the body's cement that holds tissues together.

It is the most typical feature of the disease. Because the person's joints are not held tightly enough by ligaments, they can be bent backward painlessly far beyond normal limits. This situation causes frequent joint dislocations (shoulder, jaw).

Patients' skin is thin, soft, and elastic, almost like dough. When the skin is pulled outward, it stretches like a rubber band. Additionally, their skin bruises very easily, and wounds heal very slowly, leaving paper-thin scars.

There are many subtypes of EDS. In the Vascular type, because the collagen deficiency is in the blood vessel walls, major arteries (such as the aorta) or intestines can suddenly rupture without any warning, which can be fatal.

Clinically, the patient's joint flexibility is measured using the Beighton score, and the skin structure is examined. Definitive diagnosis and subtype determination are made through Genetic (DNA) test analysis.

There is no cure to fix the genetic mutation. Treatment is preventative; physiotherapy is applied to strengthen the joints, and heavy contact sports are forbidden. For those with vascular involvement, blood pressure is kept at low levels with special medications.