Types of Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) refers to a group of genetic connective tissue disorders. EDS affects 1 in 5,000 people worldwide, according to the National Library of Medicine’s Genetics Home Reference. EDS is usually noticed at birth or in early childhood, but it is also possible for a person to develop symptoms as a young adult.

Here is what you need to know about Ehlers-Danlos syndrome, including types, symptoms, causes, treatment, and more.

Ehlers-Danlos Syndrome Types and Symptoms

EDS is currently classified into 13 major subtypes, and each type has a set of specific symptoms. Each type of EDS affects different parts of the body.

Common symptoms of EDS include easy bruising, loose joints (joint hypermobility), stretchy skin (skin hyperextensibility), tissue weakness, and atrophic scarring (indented and imbalanced scarring below normal layers of skin because the skin is unable to generate tissue).

Classic-type and hypermobility are the most common types of EDS. The other types are rarer. What all the types have in common is hypermobility—a large range of motion of the joints.

Classic

This type of EDS is marked by joint hypermobility, skin hyperextensibility, and collagen fragility. Skin in classic EDS is fragile and will tear or bruise easily with minor trauma. Joint dislocation and scoliosis (spine curvature) are also common. Hernias, GI or bladder outpouchings, and uterine prolapse may be seen.

About 6% of patients have aortic root dilatation or mitral valve prolapse. Generally, all patients with EDS will get a baseline echocardiogram to look at the heart and aorta, with the timing of repeat tests based on various factors. The carotid artery may appear abnormal and pneumothorax (collapse of the lung) is sometimes seen.

Hypermobility

This type mainly affects the joints, and dislocations are common. A child with hypermobile EDS will be more flexible than their peers. This advanced flexibility can lead to joint dislocations or scoliosis.

Delayed gastric emptying, orthostatic hypotension (sometimes with associated syncope), and different kinds of headaches may be seen. Patients may also have irritable bowel syndrome.

One study found a 12% incidence of aortic root dilation (a condition that can lead to aortic complications) in this group, but a follow-up study did not concur. Mitral valve prolapse is present in up to 6% of patients.

Vascular

This form of EDS, which accounts for about 4% of cases, may cause spontaneous rupture of the arteries or bowel; maternal mortality during pregnancy is also increased. A clubfoot deformity is common in newborns with this condition. Some of them may also have congenital hip dislocations. 

Skin hyperextensibility varies throughout and veins can be seen through the skin. In 80% of patients, there is the risk of a serious vascular or organ complication, and a person's life span may be shortened.

Kyphoscoliosis

Babies with this type of EDS are late in reaching milestones—such as sitting or walking—because of poor muscle tone. Older children will also have problems with walking. Joints are hypermobile and unstable, leading to frequent dislocations.

Skin may be stretchy and bruise easily. The skin may be fragile and develop wide scars. The upper part of the spine develops a curve, which may cause a hunched appearance, and the chest may appear unequal. Treating kyphoscoliosis EDS may require spine and back surgery.

Arthrochalasia

This form of EDS causes short stature (height), severe joint hypermobility, and frequent dislocations. Skin involvement may be mild or severe. 

Dermatosparaxis

People with this type of EDS have severely fragile skin that sags and folds. This rare type of EDS can be diagnosed with a skin biopsy.

Brittle Cornea Syndrome

This form of EDS is characterized by a thin cornea, which may lead to tearing or rupture of the cornea. Brittle cornea syndrome may also cause nearsightedness, a bluish tint in the white part of the eyes, and retinal detachment. Other symptoms of this type of EDS include hearing loss, hip dysplasia (abnormal positioning of the hip bones), and abnormal skin scarring.

Classical-Like EDS

This type of EDS causes skin hyperextensibility with velvet skin texture. Unlike classic EDS, it does not cause atrophic scarring, joint hypermobility, easily bruised skin, and skin discoloration—due to bleeding below skin.

Spondylodysplastic

This type of EDS is known for causing short stature in childhood, poor muscle tone that ranges from severe at birth to mild when the onset is later, skin abnormalities, and bowing of limbs.

Musculocontractural

This form of EDS causes congenital malformations (physical defects present at birth) and shortened and hardened muscles, tendons, and tissues in the thumbs and feet that may lead to deformity and disability.

Normal facial features and normal cognitive development are common. Musculocontractural EDS also causes easy bruising, skin hyperextensibility, atrophic scarring, and palmar wrinkling—an exaggeration of normal palm and finger wrinkling like what is seen when hands are in water for a prolonged time.

Myopathic

Myopathic EDS is characterized by heart muscle weakness and body muscle weakness that improves with age. It may also cause joint contractures—usually in a knee, hip, or elbow—and hypermobility of distal joints—in the ankles, wrists, hands, and feet.

Periodontal

This type of EDS is characterized by periodontal disease, an infection to the tissues that hold teeth in place. Periodontal EDS can lead to tooth loss and cause joint and skin problems. There is some disagreement among researchers on the types of symptoms caused by this type of EDS, and there have only been a small number of cases reported.

Cardio-valvular

This form of EDS is known for causing heart valve problems, skin problems—atrophic scars—hyperextensibility, thin skin, easy bruising, and joint hypermobility. 

Symptoms in Children

EDS is something a person is usually born with, but for some people symptoms may not be evident until later in life. For many children, the condition starts to present itself during puberty or can be triggered by trauma or a virus.

For most, EDS is mild, and symptoms may go unnoticed for many years. However, some children are severely affected by EDS.

EDS can also affect other systems in the body and make a child more prone to injury, bruising, skin tears, and other injuries. It may take longer for a child with EDS to heal from minor trauma.

Ehlers-Danlos Syndrome Causes

There are at least 19 gene mutations that have been linked to the development of EDS. EDS causes defects in the genes that process and form collagen—the protein found in muscles, bones, blood vessels, skin, and other connective tissues. For most people, the condition is inherited. However, there are cases where the condition is not inherited.

Gene Mutation

Some of the genes associated with EDS are COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2. These genes are responsible for providing instructions for making sections of collagen. Sections form into mature molecules of collagen to hold together connective tissues throughout the body. Other genes—ADAMTS2, FKBP14, PLOD1, and TNXB—give direction to proteins for processing and interacting with collagen. Mutations to any of these genes can disrupt the production and processing of collagen, leading to weak connective tissues.

Inheritance Pattern

The inheritance pattern for EDS differs based on the type. Classic, vascular, arthrochalasia, periodontal, and hypermobility types follow an autosomal dominant inheritance pattern—where one copy of the mutated gene is enough for the disease to develop. Most of the time, an affected person has inherited the affected gene from a parent who also has it. It is also possible to develop EDS from a new gene mutation and to have no history of EDS in the family.

The classical-like, cardio-valvular, dermatosparaxis, kyphoscoliosis, spondylodysplastic, and musculocontractural types and brittle cornea syndrome are inherited in an autosomal recessive pattern, where a person inherited two mutated genes, one from each parent.

Myopathic EDS can follow either an autosomal dominant or autosomal recessive inheritance pattern.

Tests for Ehlers-Danlos Syndrome

A healthcare provider will use a variety of testing to make an EDS diagnosis and to rule out other conditions. This may include genetic testing, skin biopsies, physical exam, and imaging.

Genetic tests: This is the most common method for identifying a faulty gene. Samples—usually blood, but sometimes skin, saliva, or amniotic fluid—are taken and examined in a lab.

Skin biopsy: With this test, the healthcare provider will take an affected skin sample and send it to a lab for examination under a microscope to look for signs of EDS, including specific genes and gene abnormalities.

Physical exam: A healthcare provider will want to see how much skin stretches and how far joints can move.

Imaging: X-rays and computed tomography (CT) take images of the inside of the body to look for EDS abnormalities—usually related to heart and bone problems. An echocardiogram might be done to determine how well the heart is pumping. The echocardiogram will also be able to help in diagnosing mitral valve prolapse.

A CT angiogram of the chest may be necessary to look at the aorta to see if there is any focal area of weakness in its wall, which can cause an aneurysm.

Ehlers-Danlos Syndrome Treatments

The goals of treatment for Ehlers-Danlos syndrome include preventing dangerous complications and protecting the joints, skin, and other body tissues from injury. Treatment will be specific to the type of EDS and the symptoms experienced. 

Your healthcare provider may also focus on managing and preventing chronic pain and fatigue and overall optimization and improvement of your complete health picture. This can include pain medications, psychotherapy, physical therapy, pain interventions and surgery, education and lifestyle changes, and management of comorbidities (other conditions you have).

Yearly eye exams are generally done if there is any eye involvement. The heart and aorta will be assessed and then monitored with varying frequency. If there is aortic dilation, medication may be given to lower blood pressure. Also, in cases of aortic dilation, the frequency of monitoring will depend upon the extent of dilation and the degree to which it is expanding.

Preoperative care may require special precautions.

Individuals with vascular EDS require very close follow-up and avoidance of trauma (including endovascular procedures as much as possible). One small study found that a drug called celiprolol significantly reduced vascular rupture over a 47-month period. In addition, blood pressure will be monitored; pregnant women will require specialized care.

Medications

Your healthcare provider may prescribe medications for managing pain and blood pressure. Over-the-counter pain relievers—including acetaminophen (Tylenol), ibuprofen (Advil), and naproxen sodium (Aleve)—are helpful in treating pain associated with EDS. Your healthcare provider can also prescribe stronger medications for pain relief as needed or for acute injuries.

Physical Therapy

Physical therapy can help to strengthen muscles and stabilize joints. Weak joints are more likely to become dislocated. Your physical therapist can recommend supportive braces to prevent dislocations.

Surgery

Some people with EDS may need surgery to repair joints damaged by dislocations. Healthcare providers try to avoid surgery and use it only as a last-resort treatment because skin and connective tissues in people with EDS do not heal well after surgery. Surgery may also be considered for repairing ruptured blood vessels or organs in people who have vascular involvement. 

Protecting Skin and Joints

Because dislocated joints and other joint injuries are common in people with EDS, your healthcare provider will recommend protecting joints by avoiding heavy lifting, contact sports, and high-impact exercise. Your healthcare provider may also recommend assistive devices—like a wheelchair or scooter—to protect your joints and help you get around, or braces to stabilize joints.

To protect your skin, your healthcare provider may recommend wearing sunscreen when outdoors and using a mild soap when washing or bathing. A vitamin C supplement can reduce bruising.

Treating EDS in Children

If your child has EDS, a specialist will usually make a diagnosis after reviewing your child’s medical and family history and performing a medical exam, skin biopsy, and other necessary testing.

Much like the treatment for teens, young adults, and older adults with the condition, your child's treatment plan will likely focus on managing symptoms and preventing further complications. This will include medications, physical therapy, practicing good lifestyle habits, and, if necessary, surgery.

To better manage your child’s condition, your child’s healthcare provider may bring in other experts who manage other related conditions, such as a cardiologist, an orthopedic healthcare provider, or a geneticist.

EDS Complications

The complications of EDS are dependent on type. Some of these complications can be life-threatening.

Vascular symptoms in EDS can cause blood vessels to tear and lead to internal bleeding, aortic dissection, or a stroke. The risk of organ rupture is high in people with EDS, as are intestinal tears and uterine tears in pregnant people.

Other potential complications of EDS include:

• Chronic joint pain
• Early-onset arthritis
• Failure of surgical wounds to heal
• Rupture of an eyeball

Coping With EDS

Because EDS is a lifelong illness, coping will be challenging. Depending on the severity of symptoms, these can affect you at home, work, and in your relationships. There are many ways to help you cope.

• Educate yourself: The more you know about EDS, the easier it will be to manage your condition.
• Educate others: Explain EDS to friends, family, and your employers. Ask your employers about accommodations that make it easier to do your job. Avoid activities that have a high chance of muscle or bone injury or joint dislocation.
• Build a support system: Form relationships with people who can be supportive and positive. You may also want to talk to a mental health professional or join a support group with people who share common experiences and can offer support and guidance for living with EDS.

Don’t Treat a Child With EDS Differently

If your child has EDS, treat your child like other children, and ask friends and family to do the same. Make sure teachers and other caregivers are aware of your child’s condition and challenges. Share with them appropriate caregiving for a medical event or injury.

While you want to encourage your child to be physically active, discourage contact sports and those that pose a high potential for injury. Your child’s healthcare provider or a physical therapist can offer some recommendations on physical activity and joint protection.

What Is Life Expectancy for Ehler-Danlos Syndrome?

The outlook for people with Ehlers-Danlos syndrome depends on the type of EDS they have and the specific disease symptoms. Most types—especially if managed and treated—will not affect a person’s life expectancy. However, if the disease is not managed, complications of the disease may alter a person’s life span—although the median life span for those with the vascular form of EDS is 48 years, and life expectancy is also decreased with kyphoscoliosis due to vascular and lung issues.

Summary

EDS is a group of connective tissue disorders. Common symptoms include loose joints, stretchy skin, easy bruising, tissue weakness, and atrophic scarring. It's caused by mutations in genes that provide instructions to the body for making collagen.

EDS in diagnosed with various tests, including genetic tests, skin biopsies, physical exams, and imaging such as X-rays and CT scans.

Treatment may involve pain medications, psychotherapy, physical therapy, surgery, and lifestyle changes.