Ehlers-Danlos syndrome, better known as male elastic disease, is characterized by a group of genetic disorders that affect connective tissue in the skin, joints, and blood vessel walls.
People with this syndrome usually have joints, blood vessel walls, and skin that stretch more than normal and also more fragile, because it is connective tissue that gives them strength and flexibility, and in some cases severe vascular damage occurs.
- This syndrome that is passed down through parents to children is incurable.
- But can be treated to reduce the risk of complications.
- Treatment involves the administration of painkillers and antihypertensives.
- Physiotherapy and in some cases surgery.
Signs and symptoms that can occur in people with Ehlers-Danlos syndrome are increased stretching of the joints, leading to wider movements than normal and, as a consequence, local pain and injury, increased elasticity of the joints. the skin that makes it more fragile and flaccid and with abnormal scars.
Also, in more severe cases, where Ehlers-Danlos syndrome is vascular, people may have a thinner nose and upper lip, prominent eyes, and even thinner skin that is easily injured. The arteries in the body are also very fragile, and in some people, the aortic artery can also be very weak, which can rupture and lead to death. The walls of the uterus and intestine are also very thin and can easily break.
Other symptoms that may occur include
Generally, this disease is diagnosed in childhood or adolescence due to frequent dislocations, sprains and exaggerated elasticity of patients, which eventually attracts the attention of the family and the pediatrician.
Ehlers-Danlos syndrome is an inherited genetic disorder that occurs due to mutations in genes that encode different types of collagen or enzymes that alter collagen and can be passed down through families.
Ehlers-Danlos syndrome is classified into 6 main types, type 3 or hypermobility, which is the most common, characterized by a greater range of motion, followed by types 1 and 2, or classic, whose alteration occurs to type I and type IV collagen and that also affects the structure of the skin.
Type 4 or vascular is rarer than the previous ones and occurs due to changes in type III collagen affecting blood vessels and organs, which can break very easily.
To make the diagnosis, it is only necessary to perform a physical examination and assess the condition of the joints, in addition, the doctor can also perform a genetic examination and a skin biopsy to detect the presence of altered collagen fibers.
Ehlers-Danlos syndrome has no cure, but treatment can help relieve symptoms and prevent complications from the disease. The doctor may prescribe pain relievers, such as acetaminophen, ibuprofen or naproxen, for example, to relieve pain and medications to lower blood pressure, as the walls of the blood vessels are weaker and the force with which the blood passes must be reduced. blood. .
In addition, physical therapy is also very important, as it helps to strengthen the muscles and stabilize the joints.
In more severe cases, where a damaged joint, in which a blood vessel or organ is broken, surgery may be necessary.