Ehlers Danlos syndrome is a hereditary disorder affecting connective tissue of the body such as the skin, blood vessels, joints etc. Connective tissues are important for maintaining elasticity and strength of the structures underlying them. There are six different variants subtypes identified of Ehlers Danlos syndrome. They are classic, hypermobile, vascular, kyphoscoliotic, arthrochalasis and dermatosparaxis.
People with Ehlers Danlos syndrome have two things in common stretchy fragile skin and extensive flexible joint; other additional features vary according to the type. People with Ehlers Danlos syndrome experience several discomforts in daily life. For example due to hyperflexibility of joints the child has delayed and difficulty in walking, sitting, and standing.The joints are lose and are prone to frequent dislocation. Wounds may heal with scars due to too much stretchy skin.
The severe vascular form can lead to rupture of blood vessels. There is no cure for this syndrome. Treatment is supportive which consists of various therapies, use of braces, wheelchair, etc. Person suffering from Ehlers Danlos syndrome must consult a genetic counselor if he intends to have children.
What Causes Ehlers Danlos Syndrome?
Ehlers Danlos syndrome was first identified during the first decade of 20th century as a hereditary disease having its manifestation on skin and joint.As time passed people came to know that there are several variants and subtypes of the disorder. However, all the subtypes are having genetic relation in the background. In small numbers the cause is not hereditary, but spontaneous mutation in the genes.
The mutation in the genes causes weakness in the formation of collagen which is the main ingredient of all connective tissue. The abnormal gene after mutation is not able to instruct proper assembling of the collagen material. Hence it leads to several changes in the structures comprising connective tissue. A person suffering from Ehlers Danlos syndrome has 50 percent chances of transferring the defective gene to his children. Prevalence if this condition is 1: 20000.
Signs And Symptoms Of Ehlers Danlos Syndrome
The signs and symptoms that are commonly encountered with Ehlers Danlos syndrome are as follows:
- Skin: In most type skin features are commonly seen. The skin is extremely elastic and fragile. It can easily bruise and healing is delayed. The scars become more prominent and wide. The skin splits easily when stitched especially on certain areas such as knees, elbow and forehead. The skin feels exceptionally soft and velvety.
- Hypermobile joints: The joints are extremely hyper mobile and can be stretched more than the normal range. They are loose joints. This may lead to frequent dislocation of the joints. Dislocation is common in fingers, shoulder, elbow and patella. Some patients suffer from chronic joint pain.
- Cardiovascular manifestations: Sudden rupture of large artery in severe form of EDS, mitral valve prolapse etc.
- Tissue fragility leads to repetitive hernia. In children there may be recurrent rectal prolapse.
- Typical facial features such as excess skin on eyelids, scars dilated. Face appears prematurely aged.
- Frequent muscular cramps, headache etc.
Treatment Guidelines For Ehlers Danlos Syndrome
Ehlers Danlos syndrome cannot be cured but the symptoms can be managed with therapies, medication and if needed surgical intervention. Since patient suffers from mild to severe pain in joints and muscles, he may need pain killers and anti inflammatory medicines occasionally. There is risk of vascular rupture due to increased fragility of the vascular lumen. Hence the physician may prescribe medicines to keep the blood pressure low.
Since the joints are weak and there is risk of frequent dislocation, there is a need to strengthen the muscles supporting the joints to keep it stable. A physiotherapy exercise is beneficial to improve the muscle tone and strength around the joint. Patient may also need specialized braces that will help to prevent joint dislocation. If conservative physiotherapy is not beneficial, surgery may be necessary for repair of the joint.
A person suffering from this disorder needs to take certain life style measures in order to prevent dislocation and complications.
- Avoid contact sports.
- Avoid to lift heavy weight.
- Apply sunscreen before going out in sun.
- Use glycerine based soaps that will keep the skin moist and prevent dryness.
- Eat fruits and foods that contain vitamin C. It helps to reduce risk of spontaneous bruising.