Ehlers-Danlos syndromes (EDS) are a group of rare genetic disorders that make the skin very stretchy and weak, allow for an unusual range of joint motions, and cause blood vessels, bones, and other organs to be more fragile. This happens due to genetic issues with collagen, a vital protein that structures your skin, ligaments, veins, bones, and even your eyes.
Usually, people with EDS face issues with their skin, bones, muscles, and veins. The production of either too little or faulty collagen leads to various complications, such as difficulty healing wounds, frequent joint dislocations due to overly flexible and weakened joints, severe bruising, and extended bleeding.
The frequency of EDS can vary. The more common types might appear in 1 out of every 5,000 births, while the rare types might only show up in 1 out of every 40,000 births. Most types of EDS cause issues like fragile skin, overly flexible joints, and ongoing pain.
The classification of EDS types depends on which body parts are most affected, the seriousness of the symptoms, and how rare the type is. The symptoms of EDS can differ depending on the type you have, but there are some common signs most people with EDS share.
Gene mutations that affect collagen production and processing are behind Ehlers-Danlos syndrome. Certain gene mutations, like those in COL5A1, COL5A2, and TNXB, are linked to more common EDS types like classical and hypermobility EDS. These mutations can be inherited from family members, making family history a significant risk factor. Occasionally, mutations can occur randomly without being inherited from a parent, known as “de novo” mutations.
Since collagen is crucial for healthy development in skin, bones, blood vessels, and other organs, defective collagen due to these mutations greatly weakens and destabilizes these structures, leading to EDS symptoms.
A diagnosis of Ehlers-Danlos syndrome is normally considered when a person displays a mix of the typical symptoms. Doctors will conduct a physical exam to assess joint flexibility to diagnose joint hypermobility. This is often measured using the Beighton hypermobility scale, where various movements, such as bending hips, knees, and waist, are checked for extreme flexibility.
Doctors might also evaluate skin stretchiness; if your skin can stretch 1.5 to 4 centimeters or more (depending on the body part), it’s deemed “hyperextensible.” Geneticists and genetic testing, along with blood tests, may also be employed to confirm the specific type of EDS.
There’s no cure for Ehlers-Danlos syndrome, so treatments aim to manage symptoms and prevent complications. Activities putting a lot of stress on your joints like heavy weightlifting, running, wrestling, and swinging sports are usually discouraged. Physical therapy is suggested to help build muscle with low-impact exercises like walking, swimming, biking, and water aerobics.
EDS patients may have trouble with wound healing on the skin, so healthcare providers may recommend more stitches or an extended time for stitches to remain to prevent wounds from reopening. High blood pressure can stress fragile blood vessels, resulting in ruptures or internal bleeding, so keeping it low can help avoid these risks. Regular heart monitoring is advised.
Healthcare providers or physical therapists can suggest supportive devices for easier mobility with less pain and reduced injury risk. These may include wheelchairs, scooters, canes, and braces, based on the type of EDS. Pain management might involve NSAIDs like Tylenol and Advil, and it’s important to discuss usage with your doctor, especially if you’re taking other medications.
Currently, there’s no way to prevent Ehlers-Danlos syndrome. If you’re worried about passing it to your children, genetic testing can be discussed with a geneticist. EDS can be inherited through dominant or recessive patterns. Classical, vascular, and hypermobility EDS follow a dominant pattern, while classical-like, dermatosparaxis, and brittle cornea types are recessive. Knowing family history and consulting healthcare providers can assist in understanding EDS inheritance and planning ahead.
Although Ehlers-Danlos syndrome can’t be cured, support options are available to help you cope and improve your quality of life. This involves a team of medical experts such as primary care doctors, physical therapists, and geneticists working together on treatment plans to manage symptoms and avoid severe issues. Education about EDS is vital, helping patients and families recognize when urgent medical care is needed. Quick signal medical alert devices can be useful for indicating severe disease complications promptly.
Psychological support through therapy can help manage living with EDS. Organizations like the National Organization for Rare Disorders (NORD) might provide financial aid for medications and insurance, while the Ehlers-Danlos Society can connect patients to support groups and educational resources. Life expectancy averages around 51 years, but this varies based on the EDS type, with classical and hypermobility types typically not reducing lifespan, unlike the vascular type, where life expectancy averages at 48 years. EDS is a lifelong condition and its diagnosis age varies, generally appearing in childhood and worsening into adulthood.
