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Ehlers-Danlos syndrome is a single or group of rare connective tissue disorders caused by 20 genes that “alter biosynthesis, organization, and/or supramolecular assembly of collagen fibrils in the extracellular matrix” (Syx, Delfien; Malfait, Fransiska, 2024). This disorder causes the following symptoms:

  • Skin hyperextensibility and fragility
  • Abnormal wound healing
  • Joint hypermobility
  • Connective tissue frailty

The overall fragility brought about by EDS can lead to many life threatening instances, like the hollowing of organs or a weakened arterial tree. 

The diagnosis of EDS is aided by something called a Beighton score. “Diagnostic and symptom checklists, including how to conduct a Beighton assessment for joint-hypermobility, are…readily available online”(Black, William R;Black, Lora L;Goldstein-Leever, Alana;Fox, Lisa, 2024). The Ehlers-Danlos Society describes it as a 9-point scale where “A positive Beighton score is any score greater than or equal to 5/9 points in adults, 6/9 points in children (before puberty), and 4/9 points in adults over age 50.”(The Ehlers-Danlos Society, 2024). Beighton assessments include an evaluation of the:

  • Thumbs
  • Elbows
  • Pinkies
  • Knees
  • Spine

During these assessments, patients are asked to hyperextended each joint. If the joint extends farther than the normal range, a point is added on the scale. One point is added for each elbow, thumb, pinky, and knee with the 9th point being singular for the hyperextension of the spine.

Assessing Joint Hypermobility

My Project

For this project, I made a physical snapshot of connective tissue containing elastic fibers and fibroblasts. I wanted to take on a more abstract approach to Ehlers-Danlos Syndrome by using elastic bands (made of rubber) to symbolize collagen/collagen fibers. Many instances of EDS have to do with the irregular spacing or small diameters/irregular spacing of the collagen fibrils in the extracellular matrix. To convey this, I linked some elastic bands on my structure together to provide varying thicknesses of fibers and even pulled some bands around to rearrange them, causing the overall structure of my project to weaken.

References

Black, W. R., Black, L. L., Goldstein-Leever, A., Fox, L. S., Pratt, L. R., & Jones, J. T. (2024). The need for primary care providers in the clinical management of hypermobility spectrum disorders and ehlers-danlos syndrome: a call to action. Rheumatology International, 44(11), 2273–2278. https://doi.org/10.1007/s00296-024-05676-4

Syx, D., & Malfait, F. (2024). Pathogenic mechanisms in genetically defined Ehlers-Danlos syndromes. Trends in Molecular Medicine, 30(9), 824–843. https://doi.org/10.1016/j.molmed.2024.06.001

The Ehlers Danlos Society. (2024, August 9). Assessing joint hypermobility. The Ehlers Danlos Society. https://www.ehlers-danlos.com/assessing-joint-hypermobility/ 

One Comment

  1. Peer Abstract by Brenna Bushman
    Ehler-Danlos Syndrome is a set of genetic abnormalities that alters how the body assembles collagen. Collagen is part of the extracellular matrix for connective tissue, and it provides flexibility while maintaining tissue integrity and not stretching. In individuals with Ehler-Danlos Syndrome, this incorrectly produced and organized collagen results in hypermobility of the joints, as well as hyper-flexible skin and abnormal wound healing. However, collagen also serves to provide durability and support to tissues, so these tissues with abnormally weak or irregular collagen are also much more fragile, leading to weak joints and skin that is prone to injury. This also applies to other tissues, such as arterial walls and organ linings. This poses danger to individuals with EDS. Chestnut’s paper addresses the syndrome itself, the Beighton score, which is the diagnostic criteria for EDS, and her visual representation of the collagen produced in this disorder. Her visual aid demonstrates the irregular, thin collagen that is produced in Ehler-Danlos Syndrome using thin rubber bands that are bunched and stretched around an object. This is an apt representation of the syndrome, as the collagen in patients is irregularly produced and distributed, as well as being weak, thin, and not properly serving its purpose as a support tissue. For this course, BIO F111X, this project is building off of the course objective to describe the four major types of tissue, which are connective tissue, epithelial tissue, muscle tissue, and nervous tissue. Chestnut focuses on connective tissue, as that is what Ehler-Danlos Syndrome primarily effects.

    Brenna Bushman

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