What is Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome is a group of disorders involving an important connective tissue known as collagen. Defective genes can cause problems with the collagen that is formed by the body, which impacts the integrity of many organs and structures in the body. Organs and body systems that can be impacted include, but are not limited to, the following:
- Heart and major blood vessels
- Musculoskeletal system
About 1 in 5,000 people in the U.S. are affected by Ehlers-Danlos syndrome. Ehlers-Danlos syndrome occurs in equal numbers in males and females, and also appears equally in all races and ethnic groups.
What causes Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome is caused by an abnormality (or mutation) in one of the various genes responsible for collagen production – these include ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB. Collagens are responsible for structure and strength of connective tissues in the body. There are six types of Ehlers-Danlos syndrome: the arthrochalasia type, the classic type, the dermatosparaxis type, the hypermobility type, the kyphoscoliosis type, and the vascular type. Each type of Ehlers-Danlos syndrome is different, though they all have some features in common.
The inheritance of Ehlers-Danlos syndrome depends on the specific type. Most cases of Ehlers-Danlos involve autosomal recessive inheritance (both copies of the gene must be abnormal to have the disorder). However, the vascular type of Ehlers-Danlos syndrome, which is the most life-threatening, is inherited in an autosomal dominant manner (passed from one parent to the child).
Why is Ehlers-Danlos syndrome a concern?
Children with Ehlers-Danlos syndrome are at risk for serious problems, depending on the specific type that they have, including the following:
- Arterial rupture. Arteries in the body break and leak blood into the nearby tissues. Arterial ruptures in Ehlers-Danlos syndrome can be spontaneous, without warning. This may result in severe bleeding, stroke, or death.
- Organ rupture. A break in the wall of organs such as the intestine or the uterus. These ruptures, like those in the arteries, can be spontaneous. Intestinal rupture can cause pain, shock and death. Uterine rupture during pregnancy risks death to the mother and the fetus.
- Joint hypermobility. Unstable joints that bend further than normal. Joint hypermobility can result in frequent joint dislocations, chronic pain and deformity.
- Scoliosis. Abnormal curvature of the spine. Scoliosis can result in significant breathing difficulties.
What are the symptoms of Ehlers-Danlos syndrome?
An abnormality of collagen creates the abnormalities in organs and body structures that may be seen with Ehlers-Danlos syndrome. Each child may experience symptoms a little differently.
Symptoms may include:
- Soft, velvety skin
- Very stretchy skin
- Tears in the skin
- Easy scarring
- Easy bruising
- Tears in the aorta (aortic rupture)
- Tears in other arteries
- Scoliosis, which is a sideways curvature of the spine, or kyphosis, which is a round curvature of the spine that can give the appearance of a hunchback
- Joint dislocations
The symptoms of Ehlers-Danlos syndrome may resemble other problems or medical conditions. Always consult your child's health care provider for a diagnosis.
How is Ehlers-Danlos syndrome diagnosed?
In addition to a complete medical history and physical examination, your child's health care provider may complete a family medical history to look for other family members with known Ehlers-Danlos syndrome or some of the characteristics of the disease.
Other diagnostic tests for Ehlers-Danlos syndrome may include the following:
Electrocardiogram (ECG or EKG). A test that records the electrical activity of the heart, shows abnormal rhythms (arrhythmias or dysrhythmias), and detects heart muscle damage.
- Echocardiography (echo). A procedure that evaluates the structure and function of the heart by using sound waves recorded on an electronic sensor that produce a moving picture of the heart and heart valves.
- Complete eye examination. An examination of the interior of the eye, performed by an ophthalmologist, using a device called a slit lamp.
- X-ray. A diagnostic test using invisible X-ray beams to produce images of internal tissues, bones, and organs onto film.
- Skin biopsy. A diagnostic test which uses a piece of skin to look at the structure of the tissue and the collagen in it.
- DNA studies. A blood sample sent to the genetics lab can be analyzed to determine whether a mutation in one of the collagen genes is present.
In order to be diagnosed with Ehlers-Danlos syndrome, your child may need a skin biopsy or DNA studies. Your child's health care provider will make the diagnosis based on medical and family history and other factors, as well as symptoms your child may exhibit.
Treatment for Ehlers-Danlos syndrome
Specific treatment for Ehlers-Danlos syndrome will be determined by your child's health care provider based on:
- Your child's age, overall health, and medical history
- The type of Ehlers-Danlos syndrome
- Your child's tolerance for specific medications, procedures, or therapies
- Expectations for the course of the disease
- Your opinion or preference
At the present time, there is no cure for the disorder. Treatment is based on determining which organ systems are affected and managing the problems that arise. Recommendations for managing Ehlers-Danlos syndrome may include the following:
- An annual echocardiogram, or echo (to monitor the heart and aorta)
- Periodic eye examination by an ophthalmologist
- Monitoring of the skeletal system for abnormalities (such as scoliosis) that can be noted in childhood or adolescence
- Skin protection and great care of the skin to prevent injury and infection
- Lifestyle adjustments (to reduce the risk of injury to the aorta, such as avoiding contact sports or stressful exercise)
Genetic counseling is important for people who have Ehlers-Danlos syndrome and are planning to have a family. Depending on the type of Ehlers-Danlos, if one parent has the disorder, there may be a 50% chance, with each pregnancy, for a child to also have Ehlers-Danlos syndrome. In addition, women with Ehlers-Danlos syndrome who become pregnant have significant risks for their health during pregnancy, due to the added stress that a pregnancy puts on the aorta and arteries, as well as the risk for uterine rupture. Women with Ehlers-Danlos syndrome should consult with their health care providers before pregnancy to determine if pregnancy is safe for them.
Long-term outlook for a child with Ehlers-Danlos syndrome
For those with the vascular type of Ehlers-Danlos, blood vessel problems pose the largest threat, which emphasizes the importance of regular evaluation by your child's health care provider. For other types of Ehlers-Danlos, skin and skeletal care are vitally important. Consult your child's health care provider for more information regarding the specific outlook for your child.
For the vascular type, which is the most life-threatening type of Ehlers-Danlos syndrome, serious complications are rare in childhood, but more than 80% of patients experience severe complications by age 40.
For women with the vascular type of Ehlers-Danlos syndrome, pregnancy and childbirth pose significant risks. These women should be evaluated with diagnostic imaging procedures, such as computed tomography angiography (CTA) or magnetic resonance angiography (MRA) before pregnancy to assess risks. Cesarean delivery (C-section) is generally recommended for pregnant women with Ehlers-Danlos syndrome to prevent strain on the aorta and uterus during labor.
Online Medical Reviewer:
Last Review Date: 01/01/0001