Ehlers-Danlos

The Ehlers-Danlos Syndrome (EDS) is the name given to a group of inherited abnormalities through genetic mutations which interfere with the production of collagen, a fibrous protein that confers strength and elasticity to tissue - skin, tendons, ligaments, cartilage and walls of organs and blood vessels.

It is a rare condition occurring in 6 major subtypes. All affect the joints and, most skin. The most common symptoms reflect the fragility of the connective tissue, such as joint hypermobility and skin fragility and laxity. Others are hernias, dislocations, weakness / hypotonia, delayed motor development, frequent bruises and difficult to heal, abnormal heart valves and spontaneous rupture of arteries, aneurysm or hollow organs.

The transmission is genetic, being the most frequent autosomal dominant, ie, a patient has a 50% chance of transmitting the disease to offspring.

Transmission and Treatment

Most patients have a relatively normal life, albeit with some restrictions on physical activity. Intelligence is not affected.

Pregnancy leads to a risk of premature birth and, in severe cases, bleeding and rupture. In some cases it is inadvisable.

There is no curative treatment for the disease. The treatment relies on relieving symptoms and the prevention of complications. In case of surgery, this should be communicated to the medical team. Analgesia is fundamental, as well as protection to avoid dislocation or wounds. The physical therapy to strengthen muscles periarticular plays an important role.

Genetic counseling should be sought in case you want to have children, for clarification of transmission patterns and the inherent risks.

Face the disease involves self-knowledge of pathology, the sharing of experience and networks of support. Children with this disease should be treated as normal as possible and routines must be appropriate to reduce the risk of injury.