Ehlers-Danlos syndrome: Everything you need to know
There are several different types of Ehlers-Danlos syndrome. Collectively, these affect as many as 1 in 5,000 people globally. However, some forms of the syndrome are very rare and affect only a few individuals worldwide.
In this article, we look at the symptoms and causes of Ehlers-Danlos syndrome, as well as the treatment options and the outlook for a person with one of these conditions.
What is Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome affects the connective tissues in the body.
Ehlers-Danlos syndrome affects the connective tissues in the body. Connective tissues are proteins and other substances that provide strength and elasticity.
They provide support within tissues throughout the body, such as the:
- blood vessels
People with Ehlers-Danlos syndrome commonly have defects in the composition of these connective tissues, which cause issues such as loose joints (joint hypermobility) and soft, fragile, and stretchy skin (skin hyperextensibility).
Image credit: Dagger9977, 2011
Image credit: SamuelEDS94, 2012
Image credit: SamuelEDS94, 2013
Image credit: SamuelEDS94, 2013
Image credit: Kashizaki F, Hatamochi A, Kamiya K, Yoshizu A, Okamoto H, 2013
Eye problems due to vascular EDS.
Image credit: National Eye Institute, 2015
The symptoms of Ehlers-Danlos syndrome vary depending on its type. They also differ from one person to another.
Most people with Ehlers-Danlos syndrome have some level of joint hypermobility and skin hyperextensibility.
In some cases, depending on the type of Ehlers-Danlos syndrome, people may have other symptoms.
Ehlers-Danlos syndrome causes the joints to become:
- hypermobile, meaning that they move beyond the normal range of motion for a joint
Complications of these symptoms include dislocated joints and osteoarthritis.
Individuals with these conditions may find that their skin is:
- soft and velvety
- slow to heal
- overly stretchy
These skin symptoms can lead to various complications, such as:
- severe bruising or tearing
- severe scarring
- wounds that are slow to heal
- molluscoid pseudotumors, which are small, fleshy lesions that develop on the skin
Ehlers-Danlos syndrome may cause additional symptoms, including:
- chronic musculoskeletal pain
- scoliosis, which is an abnormal curvature of the spine
- breathing difficulties
- bowed or curved arms and legs
- low muscle tone
- gum disease and tooth problems
- mitral valve prolapse, a heart condition
- eye problems
The vascular type of Ehlers-Danlos syndrome can cause severe symptoms, including the rupture of the walls of the blood vessels, uterus, or intestines.
This damage can lead to serious complications, especially during pregnancy. It may even be fatal if the larger blood vessels rupture.
There are 13 subtypes of Ehlers-Danlos syndrome (EDS). There may be some overlap in the clinical criteria that characterize each subtype.
The most common are the hypermobile and classical types. Other forms are much rarer.
The 13 types are:
Hypermobile EDS (hEDS)
Hypermobile EDS (hEDS) is the most common type, occurring in 1 in 5,000 to 20,000 people worldwide.
There is no genetic test available for hEDS, so a doctor will diagnose it based on a person's symptoms.
It causes skin and joint issues, fatigue, mood problems, and issues with digestion.
According to estimates, the classical type of EDS (cEDS) is likely to affect 1 in 20,000 to 40,000 people.
Classical EDS also causes joint problems, but people with this type have more skin symptoms than those with the hypermobile type. It can also cause fragile blood vessels.
Vascular EDS (vEDS) is a rare form that affects the blood vessels and internal organs, including the colon and uterus. Complications include life-threatening bleeding and difficulties during pregnancy.
People with vEDS may have unusual facial features, such as a thin nose, small earlobes, hollow looking cheeks, and prominent eyes, due to a lower amount of fat beneath the skin.
Other, rare types of Ehlers-Danlos syndrome include:
- classical-like EDS (clEDS)
- cardiac-valvular EDS (cvEDS)
- arthrochalasia EDS (aEDS)
- dermatosparaxis EDS (dEDS)
- kyphoscoliotic EDS (kEDS)
- brittle cornea syndrome (BCS)
- spondylodysplastic EDS (spEDS)
- musculocontractural EDS (mcEDS)
- myopathic EDS (mEDS)
- periodontal EDS (pEDS)
Some of these are very rare. For example, researchers only know of 12 people with dermatosparaxis EDS, and they believe that only 30 people have arthrochalasia EDS.
The risk of an affected parent passing on the mutation to their child can be as high as 50%.
Ehlers-Danlos syndrome is a genetic disorder, which means that one or more genetic abnormalities are responsible for the symptoms.
Mutations in at least 19 genes can result in someone being born with Ehlers-Danlos syndrome.
Some forms of Ehlers-Danlos syndrome are inherited, meaning that a parent can pass on the abnormal gene to their child. The child will have the same type of Ehlers-Danlos syndrome as their parent.
According to the National Organization for Rare Disorders, the risk of an affected parent passing on the mutation to their child is either 25% or 50%, depending on whether the inheritance is dominant or recessive. The subtypes of EDS have different inheritance patterns.
In some cases, the abnormal gene may not come from either one of the parents. It can result from a noninherited, spontaneous genetic mutation that occurs in the egg or sperm.
To diagnose Ehlers-Danlos syndrome, a doctor will perform a physical examination and take a personal and family medical history.
If someone has the characteristic skin and joint symptoms along with a family history of the disorder, this is often enough for the doctor to make a diagnosis. In some cases, a genetic sample can help confirm the diagnosis.
However, people can have a few symptoms of Ehlers-Danlos syndrome and not have the condition. For example, joint hypermobility affects approximately 1 in 30 people, making it very common.
Anyone with concerns that they may have Ehlers-Danlos syndrome should speak to a doctor.
Although there is no cure for Ehlers-Danlos syndrome, treatment can provide symptom relief and reduce the risk of complications.
Treatment options include:
Physical therapy and exercise
People typically require physical therapy to help them manage their joint symptoms and reduce the risk of dislocations.
It is vital to work with a physical therapist who is familiar with the condition.
In addition to exercises, the therapist may recommend braces or splints to provide support to weak joints.
Ehlers-Danlos syndrome tends to result in chronic pain and discomfort, often in the joints, muscles, or nerves. It can also cause stomach problems and headaches.
Medication can be a crucial part of a pain management strategy for many people with Ehlers-Danlos syndrome.
For daily management, people may take over-the-counter pain reliever medications, such as acetaminophen (Tylenol) or ibuprofen (Advil, Motrin). Acute injuries may require prescription pain relievers.
A doctor may prescribe other medications for additional symptoms. For example, people with vEDS may need blood pressure-lowering medications to reduce the risk of ruptured blood vessels.
In some cases, surgery may be necessary to:
- repair joint damage
- fix ruptured blood vessels
- provide joint stabilization
- reduce pressure on the nerves
However, due to the skin symptoms that Ehlers-Danlos syndrome causes, such as slow healing, surgery poses additional risks.
Swimming can help people manage the symptoms of Ehlers-Danlos syndrome.
People with Ehlers-Danlos syndrome may be able to manage their symptoms by:
- avoiding contact sports, weightlifting, and other activities that put too much strain on the joints or increase the risk of injury
- wearing a protective helmet and supportive braces during activities
- trying swimming, Pilates, yoga, or other gentle workouts
- getting enough rest and establishing a good sleep pattern to avoid fatigue
- avoiding hard foods and chewing gum, which increase the risk of injury to the jaw
- taking breaks during dental work to prevent straining the jaw
- avoiding playing wind or brass instruments, as these may increase the risk of a collapsed lung, especially in people with vascular EDS
Living with Ehlers-Danlos syndrome poses unique challenges, and people with the condition can benefit from the support of others.
Individuals with Ehlers-Danlos syndrome can seek support from many different people, including:
- family members
- a partner
- an employer or teacher
- their doctor
- a counselor, psychotherapist, or psychologist
- online support group members
- face-to-face support group members
- a physiotherapist
- an occupational therapist
- a genetic counselor
The outlook for Ehlers-Danlos syndrome varies among individuals, depending on the type they have and the severity of their symptoms.
Aside from the vascular type, most types of Ehlers-Danlos syndrome rarely reduce life expectancy.
People with vEDS have a higher risk of organ or blood vessel rupture, but taking precautions and getting the right treatment can help.
For example, the authors of a long-term study reported that the participants with vEDS who received celiprolol, a blood pressure-lowering medication, had a high survival rate and a low yearly occurrence of arterial complications.
Although Ehlers-Danlos syndrome can cause uncomfortable symptoms, lifestyle changes and medical treatments can provide relief, improve quality of life, and reduce the risk of injury and complications.