Ehlers-Danlos syndrome (EDS)
Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the connective tissues of the body. It can vary greatly in severity, and can affect the skin, blood vessels and joints.
There are six types of this condition, categorized by symptoms and the genes that are affected:
- Arthrochalasia: A rare type of the condition, in which patients have congenital hip dislocation
- Classical: Associated with organ fragility
- Dermatosparaxis: A rare type of the condition, in which patients have severe skin fragility and substantial bruising
- Hypermobility: The most common type of the condition, in which patients have loose joints and chronic joint pain
- Kyphoscoliosis: A rare type of the condition that affects the patient's spine
- Vascular type: A severe type of the condition that can cause the walls of the blood vessels, intestines and uterus to rupture.
The symptoms of EDS can vary depending on the form and severity of the condition. Patients may experience some of the following general symptoms:
- Overly flexible joints
- Overly stretchy skin
- Fragile skin
- Fatty lumps around the knees or elbows
Patients with vascular EDS often have physical characteristics that are distinctive to the condition. These may include:
- Thin nose
- Thin upper lip
- Small earlobes
- Prominent eyes
- Transparent skin
Vascular EDS can cause the blood vessels of the body to weaken — increasing the risk of rupturing the aorta, the blood vessel that carries oxygen-rich blood from the heart to the body.
Causes and Risk Factors
EDS is caused by a genetic mutation that can occur in one of eight different genes, based on the type of EDS the patient has. People with EDS have a 50 percent chance of passing the condition on to their children.
Diagnosis of EDS is usually based on symptoms, family medical history and genetic testing. The physician may also perform a physical examination to determine if the patient has other symptoms associated with EDS.
If the aorta or other blood vessels have been damaged by the condition, imaging tests such as an MRI, CT scan or chest X-ray may be used to observe the blood vessels and assess the damage. If more detail is needed about the heart and its arteries, angiography may be used. This procedure provides a map of the heart and the blood vessels near it by injecting a special dye into the blood vessels that makes the vessels show up more clearly on X-rays.
Because the condition is genetic, there is no cure for EDS. Treatment for EDS will focus on reducing stress to the aorta and other arteries, manage skeletal and joint difficulties and any pain associated with them.
Medication to manage pain and high blood pressure or cholesterol levels are the most common forms of drug therapy. This may include beta blockers to slow the heartbeat and relax the heart muscle so that it can work more efficiently. Angiotensin II receptor blockers may also be prescribed to lower blood pressure.
Physical therapy may also be prescribed if the patient has joints prone to dislocation. With physical therapy, patients can strengthen their joints and connective tissue and reduce their risk of injury. If injury due to dislocation occurs and there is damage to the joints, surgery may be needed. However, surgery for patients with EDS can be challenging because the joint tissue may not heal properly after the procedure. Therefore, endovascular therapies including stent grafts and coils are being increasingly used in severe vascular forms of EDS.
The knowledgeable and highly trained staff at the Cedars-Sinai Heart Institute and the Medical Genetics Institute will work with each patient to determine the best treatment options.