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A Misdiagnosed Odyssey

Identifying the Origin of Chronic Joint Instability

By Marian Leal

A Misdiagnosed Odyssey


 

Abstract

This case study describes the medical journey of a nurse whose eventual diagnosis of Ehlers-Danlos syndrome (EDS) was years in the making. EDS is difficult to diagnose because of its variety of symptoms that overlap with other conditions. Chronic pain, fatigue, and joint instability are widespread and affect many different areas of the body.  When a patient seeks medical intervention for EDS, it is not uncommon for them to receive multiple incorrect diagnoses. As a result, individuals can endure years of pain beset with unnecessary medical tests and treatments. This case study gives students an opportunity to explore a variety of topics related to EDS (e.g., structure and function of intervertebral joints, epidural injections, collagen, inheritance patterns, supportive care). Originally designed for undergraduate students in the first semester of an anatomy and physiology two-semester sequence, the case can easily be adapted for non-science majors in a human biology course. Before beginning the case, students should have a good understanding of the various connective tissues of the human body and the characteristics of joints.

   

Date Posted

12/08/2025

Overview

Objectives

  • Describe the structure and function of the intervertebral joints.
  • Describe how an epidural injection is administered to alleviate pain.
  • Explain how problems with defective collagen or the biosynthesis of collagen can lead to joint instability in Ehlers-Danlos syndrome (EDS).
  • Use the genes identified in this case study to determine the specific type of EDS, i.e., classical EDS (cEDS).
  • Explain how cEDS is inherited by an autosomal dominant pattern.
  • Appreciate that a diagnosis of EDS is often delayed and complicated.
  • Describe how the use of adaptive devices can support individuals with EDS.

Keywords

Ehlers-Danlos syndrome; EDS; connective tissue disease; collagen; chronic pain; joint instability; epidural

  

Subject Headings

Anatomy
Biology (General)

EDUCATIONAL LEVEL

Undergraduate lower division 

  

FORMAT

PDF, PPTX

   

TOPICAL AREAS

N/A

   

LANGUAGE

English

   

TYPE/METHODS

Analysis/Issues, Interrupted

 

 

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