Ehlers-Danlos Syndrome - Symptoms and Causes (2024)

Request an appointment

Print

Overview

Ehlers-Danlos syndrome is a group of hereditary conditions that affect your connective tissue – mainly your skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to your body's underlying structures.

People with Ehlers-Danlos syndrome usually have extremely flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that needs stitches, as the skin is often not strong enough to hold it.

A more severe form of the condition, called vascular Ehlers-Danlos syndrome, can cause the walls of your blood vessels, intestines, or uterus to rupture. Because vascular Ehlers-Danlos syndrome can cause serious complications during pregnancy, it is best to talk to a geneticist before starting a family.

Symptoms

There are many different types of Ehlers-Danlos syndrome, but the most common signs and symptoms include:

  • Joints that are too flexible.Because the connective tissue that holds the joints together is looser, your joints can move far beyond their normal range of motion. Joint pain and dislocations are common.
  • Stretchy skin.Weakened connective tissue allows your skin to stretch much more than normal. You may be able to pull some of the skin away from your flesh, but it will snap right back into place when you let go. Your skin may also feel unusually soft and velvety.
  • Fragile skin.Damaged skin often does not heal properly. For example, the sutures used to close a wound will often tear out, leaving a gaping scar. These scars may appear thin and wrinkled.

The severity of symptoms can vary from person to person and depends on the specific type of Ehlers-Danlos syndrome you have. The most common type is called hypermobile Ehlers-Danlos syndrome.

Vascular Ehlers-Danlos syndrome

People with vascular Ehlers-Danlos syndrome often share characteristic facial features, such as a thin nose, thin upper lip, small earlobes, and prominent eyes. They also have thin, translucent skin that bruises very easily. In people with a light skin color, the underlying blood vessels are clearly visible through the skin.

Vascular Ehlers-Danlos syndrome can weaken the largest artery in your heart (aorta), as well as the arteries to other parts of your body. A rupture of any of these important blood vessels can be fatal. The vascular type can also weaken the walls of the uterus or colon, which can also rupture.

Reasons

Different types of Ehlers-Danlos syndrome are associated with a number of genetic causes, some of which are inherited and passed from parent to child. If you have the most common form, hypermobile Ehlers-Danlos syndrome, there is a 50% chance that you will pass the gene on to each of your children.

Complications

Complications depend on the types of signs and symptoms you have. For example, joints that are too flexible can lead to joint closure and early arthritis. Fragile skin can develop noticeable scars.

People with vascular Ehlers-Danlos syndrome are at risk for often fatal ruptures of large blood vessels. Some organs, such as the uterus and intestines, can also rupture. Pregnancy can increase the risk of uterine rupture.

Prevention

If you have a personal or family history of Ehlers-Danlos syndrome and are considering starting a family, you may benefit from talking to a genetic counselor: a health care provider trained to manage the risk of inherited conditions. to estimate. Genetic counseling can help you understand the inheritance pattern of the type of Ehlers-Danlos syndrome that affects you and the risks it poses to your children.

By Mayo Clinic staff

Care for Ehlers-Danlos Syndrome at the Mayo Clinic

Request an appointment

25 augustus 2022

Print

  1. Ehlers-Danlos syndromes. Genetic and Rare Disease Information Center (GARD). https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes. Accessed August 12, 2020.
  2. Ferri FF. Ehlers-Danlos syndrome. In: Ferri's Clinical Advisor 2021. Elsevier; 2021. https://www.clinicalkey.com. Accessed August 12, 2020.
  3. Pauker SP, et al. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. https://www.uptodate.com/contents/search. Accessed August 12, 2020.
  4. KliegmanRM, et al. Ehlers-Danlos syndrome. In: Nelson Textbook of Pediatrics. 21st edition Elsevier; 2020. https://www.clinicalkey.com. Accessed August 12, 2020.
  5. Ask MayoExpert. Ehlers-Danlos syndromes. Mayo Clinic; 2019.
  6. Pauker SP, et al. Overview of the treatment of Ehlers-Danlos syndromes. https://www.uptodate.com/contents/search. Accessed August 12, 2020.
  7. A Teacher's Guide: Meeting the Needs of the Ehlers-Danlos Child. Ehlers-Danlos National Foundation. https://ehlers-danlos.com/resource-guides. Accessed August 12, 2020.
  8. Deyle DR (expert advice). Mayo Clinic. September 22
  9. Morrow ES Jr. Allscripts EPSi. Mayo-clinic. August 12,

Related

Associated procedures

  • Echocardiogram
  • Genetic test
  • Music biopsies

Ehlers-Danlos syndrome

  • Care at MayoClinic

Advertisem*nt

Mayo Clinic does not endorse any companies or products. Advertising revenue supports our nonprofit mission.

Advertising and sponsorship

CON-20310632

  • Ehlers-Danlos syndrome
Ehlers-Danlos Syndrome - Symptoms and Causes (2024)

FAQs

Ehlers-Danlos Syndrome - Symptoms and Causes? ›

Different types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed on from parent to child. If you have the most common form, hypermobile Ehlers-Danlos syndrome, there's a 50% chance that you'll pass on the gene to each of your children.

What is the root cause of Ehlers-Danlos syndrome? ›

Different types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed on from parent to child. If you have the most common form, hypermobile Ehlers-Danlos syndrome, there's a 50% chance that you'll pass on the gene to each of your children.

Who is most likely to get Ehlers-Danlos syndrome? ›

Ehlers-Danlos Syndrome Causes

EDS is a genetic disorder. That means it's something that can be passed on to you from your parents. If one of your parents has this condition, you're likely to have it, too. But some people who are diagnosed with EDS are the first in their family to get it.

Is EDS a disability? ›

The answer is that Ehlers-Danlos Syndrome (EDS) can be a disabling condition, depending on how it presents. EDS is a genetic disorder affecting connective tissues and causing an array of serious physical problems, ranging from joint pain to cardiovascular issues.

Can EDS be mistaken for lupus? ›

Although some symptoms of EDS and lupus can be similar, there are distinctive features of EDS that can help provide an accurate diagnosis. Loose joints, delicate skin, and stretchy skin are important characteristics of EDS that help identify the condition.

What are the facial signs of EDS? ›

As a type of Ehlers-Danlos syndrome (EDS), vascular EDs (vEDS) is typified by a number of characteristic facial features (eg, large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears).

At what age is Ehlers-Danlos usually diagnosed? ›

Since Ehlers-Danlos Syndrome can be present at birth or shortly thereafter, it is not unusual for it to be diagnosed during a child's toddler years. This can be done by looking at their specific symptoms, family history, urine testing and skin biopsies. It can sometimes be helpful to perform a cardiac ultrasound.

What is EDS life expectancy? ›

Patients with vascular EDS have an average life expectancy of 48 years. About 80% of patients might have a critical event by the age of 40 years. The lifespan of a patient with kyphoscoliosis EDS is reduced due to two reasons: Involvement of the blood vessels.

Do people with EDS look younger? ›

Due to the collagen in the skin being extra stretchy, many EDS patients experience a lack of wrinkles as they age. This collagen may help EDS patients look younger and can also cause skin to feel extremely soft. Doctor's even describe the skin as “velvet-soft”.

What foods should people with EDS avoid? ›

For someone with both EDS and hypertension, reducing their intake of processed foods, which are often high in salt and unhealthy fats, would be crucial. They might also be advised to incorporate foods rich in potassium, magnesium, and calcium, such as bananas, leafy greens, and dairy or fortified alternatives.

Why are EDS patients called zebras? ›

"When you hear hoof beats behind you, don't expect to see a zebra." Medical students are given this quote as a way to let them know that they should look for a common diagnosis for the symptoms they are given instead of the possibility of it being a rare case. This is why people with EDS refer to themselves as Zebras.

Does EDS affect teeth? ›

EDS can cause a variety of dental anomalies, including enamel defects, high cusps and low fissures of the molars and premolars, shortened or abnormally shaped tooth roots, and early loss of gum tissue. If you have EDS, you have a much higher risk of cavities, tooth decay, gum recession, and tooth loss.

Is Ehlers-Danlos an autoimmune disease? ›

In the U.S., two million people live with rheumatoid arthritis, and another 1.5 million live with lupus. A much rarer group of connective tissue disorders is called Ehlers-Danlos syndrome. Unlike the diseases noted above, Ehlers-Danlos syndrome is not an autoimmune condition, it's an inherited disorder.

What are the red flags for Ehlers-Danlos syndrome? ›

skin that bruises easily. digestive problems, such as heartburn and constipation. dizziness and an increased heart rate after standing up. problems with internal organs, such as mitral valve problems or organ prolapse.

What are the strange symptoms of EDS? ›

Children with EDS often show delay in crawling, walking and standing. They tend to be more floppy than usual. Some rare types of EDS can affect growth and cause early joint dislocations.

What triggers EDS flare ups? ›

Flares could last for a day or months, but we see a return to baseline. I used to think flare-ups only happened after physical perceived over-exertion. But I now know and see how they can also happen with mental exertion, psychological stress, stressful live events, hormones, and even seasonal weather changes.

Can you develop Ehlers-Danlos or are you born with it? ›

EDS is something you are born with but symptoms may not manifest themselves until later in life. It is not uncommon for a genetic condition to first become apparent during puberty, alternatively symptoms can be triggered by a trauma, such as a virus, many years down the line.

Why do so many people have Ehlers-Danlos? ›

autosomal dominant inheritance (hypermobile, classical and vascular EDS) – the faulty gene that causes EDS is passed on by 1 parent and there's a 1 in 2 chance of each of their children developing the condition.

What is the physical appearance of someone with Ehlers-Danlos syndrome? ›

In general, people with this type have soft, smooth and velvety skin with easy bruising and chronic pain of the muscles and/or bones. Classical EDS is associated with extremely elastic (stretchy), smooth skin that is fragile and bruises easily; wide, atrophic scars (flat or depressed scars); and joint hypermobility.

Top Articles
Latest Posts
Article information

Author: Nicola Considine CPA

Last Updated:

Views: 6464

Rating: 4.9 / 5 (49 voted)

Reviews: 80% of readers found this page helpful

Author information

Name: Nicola Considine CPA

Birthday: 1993-02-26

Address: 3809 Clinton Inlet, East Aleisha, UT 46318-2392

Phone: +2681424145499

Job: Government Technician

Hobby: Calligraphy, Lego building, Worldbuilding, Shooting, Bird watching, Shopping, Cooking

Introduction: My name is Nicola Considine CPA, I am a determined, witty, powerful, brainy, open, smiling, proud person who loves writing and wants to share my knowledge and understanding with you.