Ehlers-Danlos syndrome

Image by Désirée Hofland

What is EDS?

The Ehlers-Danlos syndromes are a group of connective tissue disorders that can be inherited and are varied both in how they affect the body and in their genetic causes. They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility.

The Ehlers-Danlos syndromes (EDS) are currently classified into thirteen subtypes. Each EDS subtype has a set of clinical criteria that help guide diagnosis; a patient’s physical signs and symptoms will be matched up to the major and minor criteria to identify the subtype that is the most complete fit. There is substantial symptom overlap between the EDS subtypes and the other connective tissue disorders including hypermobility spectrum disorders, as well as a lot of variability, so a definitive diagnosis for all the EDS subtypes when the gene mutation is known—all but hypermobile EDS (hEDS)—also calls for confirmation by testing to identify the responsible variant for the gene affected in each subtype.

For those who meet the minimal clinical requirements for an EDS subtype—but who have no access to molecular confirmation; or whose genetic testing shows one (or more) gene variants of uncertain significance in the genes identified for one of the EDS subtypes; or in whom no causative variants are identified in any of the EDS-subtype-specific genes—a “provisional clinical diagnosis” of an EDS subtype can be made. These patients should be followed clinically, but alternative diagnoses and expanded molecular testing should be considered.

Please remember that an individual’s experience with an EDS is their own, and may not necessarily be the same as another person’s experience. Diagnostic criteria are meant solely to distinguish an EDS from other connective tissue disorders, and there are many more possible symptoms for each EDS than there are criteria.

What does EDS mean to me?

EDS has a broad collection of symptoms and like mentioned before: an individual’s experience with EDS is their own and may not necessarily be the same as another person’s experience. This counts for me too. I have met some EDS patients with other symptoms and complications then I do. Actually, my dad has been diagnosed with EDS too. His pain and complications are often also different from mine.

Why am I sharing my symptoms?

Like I have written down in my introduction, I have searched 7 years for my diagnosis. These 7 years were tough. It left me with so many questions, I felt like no one understood me. And worst of all. I started doubting myself. I started hating my body. I never wish anyone to undergo this type of uncertainty. EDS is, luckily, more and more a known disease nowadays. But still there are a lot of doctors and patients walking around wondering what is happening in their body. I have been told by my geneticist if often takes an average of 10 to 20 years to receive a diagnosis of EDS. Even if I can help one person with finding a diagnose or doctors getting interested in the condition, would make me so happy. It’s necessary.

The symptoms I experience

  • Joint hypermobility / an increased range of joint movement
  • Pain in my muscles and bones (both nerve and stabbing pains
  • (sub) luxations
  • Smooth, velvety skin that bruises easily
  • Cannot stand, sit or walk for longer than 3-5 minutes without feeling a lot of pain
  • Extreme tiredness (fatigue)
  • Dizziness and an increased heart rate after standing up
  • Digestive problems
  • Problems with blatter control
  • Legs can fall out/feeling paralysed after too much activity
  • Pain mostly in:
    • Hip, both sides
    • Shoulders
    • Knees
    • Whole spine
    • Hands and especially fingers
    • Neck