Update by Dr Stéphane DAENS, President of GERSED Belgium, on skin biopsy and ultrastructural examination of the dermis by electron microscopy (EM) in EDS:

~ gbelasbl
  1. Skin biopsy with Electron Microscopy (EM) examination has high sensitivity and low specificity in hypermobile Ehlers-Danlos Syndrome (hEDS). In fact, skin biopsy most often shows the same abnormalities in asymptomatic hypermobile patients, patients with Hypermobility Spectrum Disorders and those actually suffering from hypermobile Ehlers-Danlos Syndrome (hEDS).
  2. There is therefore no need to perform a skin biopsy in all patients if the questioning, history and clinical examination are in favor of hEDS, and if the 2017 New York Criteria are validated.
  3. Personally, I currently only perform skin biopsies when patients have signs and symptoms of hEDS but are no longer hypermobile for one reason or another (osteoarthritis, diffuse muscle contractures, musculo-tendinous retraction reducing joint amplitude, etc.), OR when I suspect a subtype other than hEDS.), OR when I suspect a subtype of EDS other than hEDS: Classical EDS (+ genetic counselling), Vascular EDS (+ genetic counselling), Cyphoscoliotic EDS (+ genetic counselling), or Arthrochalastic or Dermatosparaxis EDS (very rare, + genetic counselling) - all these subtypes have features in ME that are different from those described in hEDS. We can also see anomalies pointing towards a mixed SED/Osteogenesis Imperfecta (SED/OI) disease in ME.
  4. In theory, mutual insurance companies are not allowed to refuse a heavy physical therapy agreement on the pretext that the biopsy has not been carried out, even though the NEW YORK 2017 Criteria have been met!
  5. The articles that followed the 2016 scientific meetings and led to the new NEW York Criteria 2017 emphasize that Diagnosis is essentially CLINICAL but skin BIOPSIA, in some cases (see above), can STRENGTHEN the diagnosis or clinical impression of the EDS physician.
  6. Contrary to much "fake news", skin biopsy and EM are performed in many countries, including Belgium, Switzerland, Germany, the Nordic countries, etc. In other countries, the dermis is not examined in EM in most cases, because no one has been trained and/or has sufficient experience in this field. In other countries, the dermis is not examined in ME most of the time, because no one has been trained in this examination and/or has sufficient experience in it.
  7. Many scientific articles on SED include electron microscopy illustrations, and to deny this is pure and simple bad faith.

Published by gbelasbl