Ehlers-Danlos Syndrome: the lengthy road to diagnosis- Term life


For people with Ehlers-Danlos syndrome, a genetic disorder affecting the strength of collagen that provides the body support, structure, and stability, the road to diagnosis can be lengthy. The reasons for this can differ from person to person, but are often related to confusion over the multiple types of Ehlers-Danlos syndrome and the many signs and symptoms associated with the condition.  We most frequently see the hypermobile type of Ehlers-Danlos Syndrome (EDS-HT) in our Connective Tissue Clinic.  From growing pains to grown-up pains, here are the most common scenarios we see:

  • An active nine-year-old girl sees her doctor because of pain in her legs at night and pain in her hands when writing at school.  She describes her leg pain as “all over,” but says they go away with Tylenol.  Her doctor reassured her family that these are “growing pains.”
  • A 13-year-old girl begins having problems after spraining her ankle playing soccer.  Healing takes a lot longer than expected and when she returns to the game, she dislocates her shoulder. Two additional surgeries are required because the shoulder “falls out” after the first.  Over time her neck, hips, knees, and ankles develop chronic daily pain that interfere with her concentration and make it difficult to sleep.  Headaches become a daily occurrence and some of them cause her to leave school early.  She also begins to feel dizzy and “blacks out” with standing.
  • A 40-year-old woman with fibromyalgia, chronic fatigue syndrome, and chronic migraines researches her symptoms on the internet and realizes that many of her problems are frequently seen in EDS-HT.  However, she does not think her joints are flexible, which is part of the diagnosis.  She remembers that in grade school she could “freak out” her friends by the way she could bend her fingers backward.

While these examples are three separate but typical scenarios for someone with EDS-HT, they can actually describe the progression of one person’s EDS-HT symptoms over time.  What can look like a mild problem in children can accelerate in adolescents and teens, becoming a condition with debilitating pain.  It can be tricky to diagnose in older patients because the flexibility can decline over time.  It is important to know that symptoms in EDS-HT are highly variable and not everyone will experience pain and/or functional limitations to the same degree—if at all.  However, with early recognition, interventions such as physical therapy can improve the stability of joints and stop the progression of pain—possibly before it even starts.

So as a parent, how do you know when to acknowledge your child’s pain as being part of normal childhood “growing pains” and when to be more concerned?  With EDS-HT, the first place to look is at the joints, which in childhood will be loose.  Signs of joint laxity, sometimes called “double-jointed” include being able to:

  1. Bend your little fingers back beyond 90 degrees
  2. Push each thumb to the front of your forearm
  3. Bend your elbows backwards
  4. Bend your knees backwards
  5. Being able to place the palms of your hands on the floor while keeping your legs straight

If your adolescent or teenager is struggling with pain in different parts of the body, along with exhibiting some of the above double-jointedness, this scenario may warrant further evaluation. Dr. Goldschneider offered descriptions of pain experiences in patients with EDS-HT in a previous blog post, for those who are interested in more specific examples.

If your adolescent or teenager has already been seen by a medical provider and you still have concerns, a clinical geneticist or doctor that specializes in connective tissue disorders may be able to provide further answers.  He or she will conduct a thorough medical and family history, along with a physical exam that will evaluate for the different types of Ehlers-Danlos syndrome.  With a confirmed diagnosis of EDS-HT, an individualized and comprehensive management plan can be developed to ultimately help your adolescent or teen attain a better quality of life.


Leave a Reply

Your email address will not be published. Required fields are marked *