Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body.
People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn't strong enough to hold them.
A more severe form of the disorder, called vascular Ehlers-Danlos syndrome, can cause the walls of your blood vessels, intestines or uterus to rupture
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.
If you have a personal or family history of Ehlers-Danlos syndrome and you're thinking about starting a family, you may benefit from talking to a genetic counselor — a health care professional trained to assess the risk of inherited disorders. Genetic counseling can help you understand the inheritance pattern of the type of Ehlers-Danlos syndrome that affects you and the risks it poses for your children.
Treatment
There is no cure for Ehlers-Danlos syndrome, but treatment can help you manage your symptoms and prevent further complications.
Medications
Your doctor may prescribe drugs to help you control:
Pain. Over-the-counter pain relievers — such as acetaminophen (Tylenol, others) ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve) — are the mainstay of treatment. Stronger medications are only prescribed for acute injuries.
Blood pressure. Because blood vessels are more fragile in some types of Ehlers-Danlos syndrome, your doctor may want to reduce the stress on the vessels by keeping your blood pressure low.
Physical therapy
Joints with weak connective tissue are more likely to dislocate. Exercises to strengthen the muscles and stabilize joints are the primary treatment for Ehlers-Danlos syndrome. Your physical therapist might also recommend specific braces to help prevent joint dislocations.
Surgical and other procedures
Surgery may be recommended to repair joints damaged by repeated dislocations, or to repair ruptured areas in blood vessels and organs. However, the surgical wounds may not heal properly because the stitches may tear through the fragile tissues.
Lifestyle and home remedies
If you have Ehlers-Danlos syndrome, it's important to prevent injuries. Here are a few things you can do to safeguard yourself.
Choose sports wisely. Walking, swimming, tai chi, recreational biking, or using an elliptical machine or a stationary bike are all good choices. Avoid contact sports, weightlifting and other activities that increase your risk of injury. Minimize stress on your hips, knees and ankles.
Rest your jaw. To protect your jaw joint, avoid chewing gum, hard rolls and ice. Take breaks during dental work to close your mouth.
Wear supportive shoes. To help prevent ankle sprains, wear laced boots with good arch support.
Improve sleep. Body pillows and super-dense foam mattresses can provide support and cushioning for painful joints. Sleeping on your side may also help.
Coping and support
Coping with a lifelong illness is challenging. Depending on the severity of your symptoms, you may face challenges at home, at work and in your relationships with others. Here are some suggestions that may help you cope:
Increase your knowledge. Knowing more about Ehlers-Danlos syndrome can help you take control of your condition. Find a doctor who's experienced in the management of this disorder.
Tell others. Explain your condition to family members, friends and your employer. Ask your employer about any accommodations that you feel will make you a more productive worker.
Build a support system. Cultivate relationships with family and friends who are positive and caring. It also may help to talk to a counselor or clergy member. Support groups, either online or in person, help people share common experiences and potential solutions to problems.
Helping your child cope
If you are a parent of a child with Ehlers-Danlos syndrome, consider these suggestions to help your child:
Maintain normalcy. Treat your child like other children. Ask others — grandparents, aunts, uncles, teachers — to do the same.
Be open. Allow your child to express his or her feelings about having Ehlers-Danlos syndrome, even if it means being angry at times. Make sure your child's teachers and other caregivers know about your child's condition. Review with them appropriate caregiving skills, particularly in the event of a fall or injury.
Promote safe activity. Encourage your child to participate in physical activities with appropriate boundaries. Discourage contact sports while encouraging non-weight-bearing activities, such as swimming. Your child's doctor or physical therapist also may have recommendations.
Connective tissues support your organs and hold parts of your body in place. They’re made of two proteins: collagen and elastin. EDS affects your body’s ability to produce collagen the way it should. People with EDS have weaker collagen. This means their connective tissue isn’t as strong or supportive as it should be.
Ehlers-Danlos syndrome can affect any connective tissue in your body, including your:
Cartilage.
Bones.
Blood.
Fat.
Depending on where EDS affects your connective tissue, you might experience symptoms in your:
Skin.
Joints.
Muscles.
Blood vessels.
Ehlers-Danlos syndrome is a genetic disorder. Talk to a healthcare provider about testing for EDS if someone in your biological family has it (an immediate relative like a biological parent, grandparent or sibling).
Healthcare providers classify Ehlers-Danlos syndrome into 13 types based on where it affects you and the symptoms it causes.
Experts estimate that 1 in 5,000 people has Ehlers-Danlos syndrome.
What are Ehlers-Danlos syndrome symptoms?
Each type of Ehlers-Danlos syndrome has its own symptoms, but the most common EDS symptoms include:
Overly flexible (hypermobile) joints — it might feel like your joints are loose or unstable.
Soft skin that’s thinner and stretches more than it should.
Bruising easily or more often than usual.
Unusual scarring or taking unusually long to heal after a cut or small wound.
Joint and muscle pain.
Fatigue (feeling tired all the time).
Difficulty concentrating.
Most people with Ehlers-Danlos syndrome don’t have a known genetic mutation, so providers usually diagnose it based on your symptoms and medical history.
Most types of Ehlers-Danlos syndrome don’t affect or lower your life expectancy.
If you have EDS that affects your blood vessels (vascular Ehlers-Danlos syndrome), you might have an increased risk of experiencing a stroke or other fatal vascular issues.
Hypermobile EDS
People with hEDS may have:
joint hypermobility
loose, unstable joints that dislocate easily
joint pain and clicking joints
extreme tiredness (fatigue)
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
problems with bladder control (urinary incontinence)
Currently, there are no tests to confirm whether someone has hEDS.
Classical EDS (cEDS) is less common than hypermobile EDS and tends to affect the skin more.
People with cEDS may have:
joint hypermobility
loose, unstable joints that dislocate easily
stretchy skin
fragile skin that can split easily, especially over the forehead, knees, shins and elbows
smooth, velvety skin that bruises easily
wounds that are slow to heal and leave wide scars
hernias and organ prolapse
EDS can be inherited, but it happen by chance in someone without a family history of the condition.
The 2 main ways EDS is inherited are:
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
autosomal recessive inheritance (kyphoscoliotic EDS) – the faulty gene is inherited from both parents and there's a 1 in 4 chance of each of their children developing the condition
A person with EDS can only pass on the same type of EDS to their children.
For example, the children of someone with hypermobile EDS cannot inherit vascular EDS.
The severity of the condition can vary within the same family.
Results We found 6021 individuals (men: 30%, women: 70%) with a diagnostic code of either EDS or JHS. This gives a diagnosed point prevalence of 194.2 per 100 000 in 2016/2017 or roughly 10 cases in a practice of 5000 patients. There was a pronounced gender difference of 8.5 years (95% CI: 7.70 to 9.22) in the mean age at diagnosis. EDS or JHS was not only associated with high odds for other musculoskeletal diagnoses and drug prescriptions but also with significantly higher odds of a diagnosis in other disease categories (eg, mental health, nervous and digestive systems) and higher odds of a prescription in most disease categories (eg, gastrointestinal and cardiovascular drugs) within the 12 months before and after the first recorded diagnosis.
Mast cell activation disorder is a malfunctioning of part of the immune system, where a type of immune cell (mast cells) release an excess of inflammatory chemicals such as histamine, causing allergy-like symptoms throughout the body. Mast cell dysregulation may be linked to some types of Ehlers-Danlos Syndromes.
Bladder dysfunction is very common in the general population, but there may be an increased risk of various bladder disorders in EDS. This could be due to differences in the anatomy of the urinary tract and pelvis, to dysfunction of the involuntary part of the nervous system which also controls the bladder, a consequence of inflammation, or of bowel problems which can affect bladder function.
Hypermobile Ehlers-Danlos syndrome is associated with a range of digestive disorders. These may be problems to do with the structure of the gut, such as hernias. Also common is malfunctioning of the coordination of involuntary muscle movements which push food along the digestive tract, leading to issues such as acid reflux and irritable bowel syndrome. Treatment is according to symptoms.
There are many neurological and spinal problems which have been observed to be more common in EDS, examples include migraine, early disc degeneration, Chiari 1 malformation, craniocervical instability, motor delay, and curvature of the spine. Musculoskeletal pain can start early and be chronic. Weakness, fatigue, and mild impairment of mobility and daily activities may also occur.
Anxiety disorders and depression are commonly reported by people with hypermobile Ehlers-Danlos syndrome. There is evidence of a strong link between psychiatric problems and chronic pain in hEDS. There is some limited evidence pointing towards a connection between hEDS and other psychiatric conditions but more research is needed. Management of mental health problems can involve drug treatment and psychotherapy.