- What are the signs and symptoms
- Possible causes
- What types
- What is the diagnosis
- How the treatment is done
Ehlers-Danlos syndrome, better known as elastic male disease, is characterized by a group of genetic disorders that affect the connective tissue of the skin, joints and blood vessel walls.
Generally, people with this syndrome have joints, blood vessel walls and skin that are more extensible than normal and also more fragile, since it is the connective tissue that has the function of giving them resistance and flexibility, and in some cases may, severe vascular damage occurs.
This syndrome that passes from parents to children has no cure but can be treated to reduce the risk of complications. Treatment consists of administration of analgesic and antihypertensive drugs, physical therapy and, in some cases, surgery.
What are the signs and symptoms
The signs and symptoms that can occur in people with Ehlers-Danlos syndrome are greater extensibility of the joints, leading to the execution of wider movements than normal and consequent local pain and the occurrence of injuries, greater elasticity of the skin that makes it more fragile and more flabby and with abnormal scarring.
In addition, 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 may also be very weak, which may rupture and lead to death. The walls of the uterus and intestine are also very thin and can easily break.
Other symptoms that may arise are:
- Very frequent dislocations and sprains due to joint instability; Muscle contusion; Chronic tiredness; Arthrosis and arthritis even in youth; Muscle weakness; Pain in muscles and joints; Greater resistance to pain.
Generally, this disease is diagnosed in childhood or adolescence due to the frequent dislocations, sprains and exaggerated elasticity that patients have, which ends up calling the attention of the family and the pediatrician.
Possible causes
Ehlers-Danlos syndrome is an inherited genetic disease that occurs due to mutations of genes that encode the various types of collagen or enzymes that alter collagen, and can be transmitted from parents to children.
What types
Ehlers-Danlos syndrome is classified into 6 main types, being type 3, or hypermobility, the most common, which is characterized by a greater range of movement, followed by type 1 and 2, or classic, whose alteration is gives collagen type I and type IV and that affect the skin structure more.
Type 4 or vascular is more rare than the previous ones and occurs due to changes in type III collagen that affects blood vessels and organs, which can rupture very easily.
What is the diagnosis
To make the diagnosis, just perform a physical examination and assess the state of the joints. In addition, the doctor may also perform a genetic examination and a skin biopsy to detect the presence of altered collagen fibers.
How the treatment is done
Ehlers-Danlos syndrome has no cure, but treatment can help relieve symptoms and prevent complications from the disease. The doctor may prescribe painkillers, such as paracetamol, ibuprofen or naproxen, for example, to relieve pain and medicines to lower blood pressure, since the blood vessel walls are weaker and it is necessary to reduce the force with which the blood passes.
In addition, physiotherapy is also very important, as it helps to strengthen the muscles and stabilize the joints.
In more severe cases, in which it is necessary to repair a damaged joint, in which a blood vessel or organ ruptures, surgery may be necessary.
