Ehlers-Danlos Syndrome – Diagnosis and Treatment

Diagnosis

Doctors usually look for things like loose joints, stretchy skin, and any family history of Ehlers-Danlos syndrome (EDS). These features are important first clues.

If there’s a need to confirm a diagnosis or rule out similar connective tissue disorders, doctors may order genetic testing. This is especially helpful in identifying rarer types of EDS, such as vascular EDS or kyphoscoliotic EDS, which have known genetic markers.

For hypermobile EDS, genetic tests don’t exist yet. So, doctors rely on symptoms—joint flexibility, repeated dislocations, and easy bruising are big clues.

Common Diagnostic Features Table:

Symptom	Common in EDS Types
Loose or flexible joints	Yes
Fragile or stretchy skin	Yes
Frequent dislocations	Yes
Easy bruising	Yes
Family history	Often relevant

To assess joint flexibility, doctors often use the Beighton score, a 9-point scale that checks how bendy certain joints are. The higher the score, the more likely a hypermobility disorder is present.

They’ll probably ask about other symptoms too, like gum disease or skin problems, to help tell EDS apart from similar inherited conditions.

Treatment

Medicines for Symptom Control

Doctors often recommend pain medicine to manage joint pain and those nagging aches. Usually, they’ll suggest milder options like acetaminophen, ibuprofen, or naproxen sodium.

If someone has high blood pressure, doctors may prescribe meds to keep it in check. That’s especially important since fragile blood vessels can be an issue with EDS.

Table: Common Medicines

Medicine	Use
Acetaminophen	General pain relief
Ibuprofen	Reduces inflammation
Naproxen sodium	Manages pain and swelling

Strengthening and Movement Therapy

Exercise-based rehab really helps support weak joints and muscles. Physical therapists put together personal plans to boost joint stability and lower the risk of dislocations.

Sometimes, braces or supports come into play to protect joints during movement. This kind of therapy can reduce fatigue and help people get around more easily.

Surgeries and Other Medical Procedures

Doctors only suggest operations if someone has severe joint damage or needs torn blood vessels repaired. Surgery is a last resort because people with EDS heal slowly and their tissue is pretty delicate.

A team of specialists often gets involved to make care better. They can help with quality of life and offer extra support for anxiety, dizziness, and pain.

Practical Tips for Everyday Management

People with Ehlers-Danlos syndrome can really benefit from a few day-to-day habits. Picking low-impact activities—think walking, swimming, tai chi, biking, or using an elliptical—helps protect joints.

It’s best to skip contact sports and heavy lifting to avoid injuries. Supporting joints matters too. Wearing laced boots with good arch support can help prevent ankle sprains.

Body pillows or a dense foam mattress can make sleep more comfortable for sore joints. Resting your jaw by avoiding gum and hard foods can also make a difference.

A healthy diet, gentle exercise, and managing stress all play a role in keeping joints and your whole self in better shape.

Managing Everyday Life and Support

Supporting a child with Ehlers-Danlos syndrome takes patience and a bit of planning. Parents and caregivers do best when they learn about EDS, set up regular doctor visits, and work with a team who knows the ropes.

Encouraging Normal Activities

• Treat kids with EDS as much like their peers as possible.
• Let teachers and relatives know to do the same. It helps kids feel included and builds confidence.

Open Communication

• Give kids space to talk about how they’re feeling, especially if they’re frustrated.
• Keep teachers, babysitters, and school staff in the loop about the child’s needs. Give clear instructions for what to do if injuries happen.

Choosing Safe Activities

• Steer kids toward gentle activities like swimming or walking.
• Skip high-contact sports, like football, to help prevent joint injuries.
• Ask the doctor or physical therapist for a list of safe activities.

Building Support Networks

• Meeting others facing the same challenges can make a big difference.

Using Therapeutic Techniques

• Cognitive behavioral therapy (CBT) can help kids learn to cope with pain and stress.
• Working with counselors can build confidence and help manage emotions.

Here’s a handy table for supporting children with EDS:

Support Area	Examples
Activity Adaptations	Swimming, biking, stretching
Emotional Support	Open talks, counseling, CBT, peer groups
Safety in Daily Life	Educated caregivers, clear action plans
Social Connections	Playdates, safe group activities

These steps can really help kids manage Ehlers-Danlos syndrome and stay active, safe, and emotionally healthy.

Getting Ready for Your Visit

Before you see a specialist, it helps to jot down your symptoms and when they started. Make a note if any family members have similar health issues or if anyone in your family had blood vessel or organ problems.

Bring a list of all your medicines and supplements too.

Helpful Tips
List symptoms
Collect family medical history
List all medicines/supplements

What the Doctor Might Ask

At your appointment, the doctor might ask about how flexible your joints feel. They could also want to know if your skin seems stretchier than usual.

You might get questions about how your skin heals, or if you tend to get scars easily. Try to answer as honestly as you can. That way, doctors can get a clearer picture of your health.