What is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome is a hereditary disorder that affects the connective tissue in the skin, joints, and blood vessels. It is caused by a faulty gene that leads to a defect in collagen, proteins that add strength and flexibility to the connective tissue in your body.
The disorder can be passed from one parent to a child in either a dominant or recessive genetic inheritance pattern. Both types of the syndrome are caused by a defect in the collagen gene.
Most people with Ehlers-Danlos syndrome have very flexible and stretchy skin that can bruise easily. Some types of conditions cause abnormal scarring, as well.
Many types of Ehlers-Danlos syndrome can cause easy bleeding or rupture (perforation) of a blood vessel or organ, such as the heart or large intestines. These complications can be fatal if not treated immediately.
Vascular Ehlers-Danlos Syndrome
This type of Ehlers-Danlos causes a weakening of the wall of your heart's largest artery (aorta) and other large blood vessels throughout your body. It can also weaken your uterus or large intestines, so you may develop easy bruising, internal bleeding, a hole in the wall of your intestine (intestinal perforation), and stroke.
These vascular EDS symptoms can be more severe in children than adults. They can also develop kyphosis or scoliosis (abnormal curvature of the spine) and low bone mass.
Some forms of Ehlers-Danlos Syndrome affect the clear covering of your eyes or cornea. They can lead to tearing or rupture of the cornea (bluish tint in the white part of your eyes) and retinal detachment. These eye problems can cause nearsightedness, blindness, and a bluish tint in your eyes.
Other types of Ehlers-Danlos can affect the muscles, bones, and fluid in your body. They can make it difficult to breathe and may lead to a blockage in the airway or lungs, such as a pneumothorax.
In most cases, these conditions are not serious and can be managed with medication or physical therapy. A healthcare team that understands each person's symptoms is key to managing Ehlers-Danlos.
A medical doctor, physical therapist, and dietitian are the primary providers for people with Ehlers-Danlos. These specialists can help you understand your condition and guide you through treatment and management strategies.
The best way to avoid a complication is to follow your doctor's recommendations for medication, monitoring, and physical activity. It's also important to discuss any underlying medical problems that may have an impact on your Ehlers-Danlos condition.
Pregnancy and Birth
Women with Ehlers-Danlos and a related hereditary syndrome called hypermobility spectrum disorder (HSD) should talk to their doctors about managing pregnancy. This includes discussing the risks to a woman and her unborn child and understanding the options for family planning.
During pregnancy, a woman who has Ehlers-Danlos and HSD should be monitored closely for complications. During delivery, the baby can become distressed and have trouble breathing.
Most children with Ehlers-Danlos have an inherited tendency to sprain or dislocate their joints. In rare cases, this can lead to broken bones or a spinal cord injury. Fortunately, these injuries are very rare in children with Ehlers-Danlos.
Ehlers-Danlos Syndrome cause is a genetic defect in the body's connective tissue. These connective tissues provide support and structure to your body's organs, bones, blood vessels, and skin. These tissues are made of collagen, a protein that is essential for healthy joints and cartilage.
People with Ehlers-Danlos Syndrome have abnormal collagen. This can weaken the connections in the body's tissues, which makes them unable to keep their shape and flexibility.
It also can make them more prone to injury and other problems, like joint pain, premature aging due to sun exposure, and slow-healing cuts, bruises, or wounds. This can lead to a lot of frustration for people with Ehlers-Danlos syndrome and their families.
There are 13 types of Ehlers-Danlos Syndrome, each characterized by its own set of symptoms. Doctors classify them based on their most notable features and the parts of the body where symptoms appear.
Type I – Hypermobile (hEDS)
The most common form of Ehlers-Danlos syndrome is hEDS, which causes overly flexible joints and soft, velvety skin. It is caused by a gene mutation that changes the way collagen is made in your body.
Your doctor will examine your joints and skin to determine if you have Ehlers-Danlos Syndrome. If you do have this condition, your doctor may refer you to a genetic specialist.
