Research on Ehlers-Danlos Syndrome, Cranial Cervical Instability and Misdiagnosis of Complex Medical Conditions
The following three tables are a representative sampling of current scientific and medical research on Ehlers-Danlos Syndrome, Cranial Cervical Instability, and the frequent misdiagnosis by medical professionals of complex medical conditions including, but not limited to, these two conditions. Links to the web version of each paper/article come first, followed by a link to the PDF version.
Misdiagnosis of Complex Medical Conditions
| Paper Title | Author(s) | Year | Summary | Links |
|---|---|---|---|---|
| Natural history and manifestations of the hypermobile type Ehlers–Danlos syndrome: A pilot study on 21 patients | 2010 | A small study of 21 patients that found hypermobile EDS is common but frequently misdiagnosed. The researchers tracked what symptoms patients experienced over time. | Item is paywalled; PDF link will be available once we can obtain the full-text PDF of this paper. | |
| Implicit Racial/Ethnic Bias Among Health Care Professionals and Its Influence on Health Care Outcomes: A Systematic Review | William J Hall et al. | 2015 | A comprehensive review that found most healthcare providers have unconscious bias favoring White patients and negative attitudes toward people of color, which affects patient care quality. | Web link / PDF link |
| Implicit bias in healthcare professionals: a systematic review | Chloe FitzGerald / Samia Hurst | 2017 | Review examining evidence that healthcare professionals show unconscious biases toward patients based on characteristics like race or gender that shouldn't matter medically. | Web link / PDF link |
| Gender disparities in clinical practice: are there any solutions? Scoping review of interventions to overcome or reduce gender bias in clinical practice | Lorena Alcade-Rubio et al. | 2020 | A comprehensive review of different methods and interventions that can help reduce gender bias in healthcare settings. | Web link / PDF link |
| The reduction of race and gender bias in clinical treatment recommendations using clinician peer networks in an experimental setting | Damon Centola et al. | 2021 | Research showing how structured information sharing between doctors can reduce race and gender bias in medical decision-making. | Web link / PDF link |
| Gender and ethnicity bias in medicine: a text analysis of 1.8 million critical care records | David M. Markowitz | 2022 | Analysis of nearly 2 million medical records showing that doctors are more judgmental and doubtful when talking to Black patients compared to White patients. Doctors with racial bias also use more anxiety-related words with Black patients. | Web link / PDF link |
| Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome | Colin M.E. Halverson et al. | 2023 | This study looks at how often patients with hypermobile EDS are misdiagnosed and have other conditions alongside their EDS. It examines the long journey patients often face before getting the correct diagnosis. | Web link / PDF link |
| Do you really have atlantoaxial and craniocervical instability? A critical view on the overdiagnosis of AAI/CCI | Kjetl Larsen | 2023 | This paper argues that CCI and atlantoaxial instability are being diagnosed too often using inappropriate criteria, which causes unnecessary anxiety and suffering for patients when subtle findings don't match their symptoms. | Web link/ PDF link |
| The Incidence of Misdiagnosis in Patients with Ehlers–Danlos Syndrome | Chanbin Lee / Predeep Chopra | 2025 | Research showing that 10-15% of all medical diagnoses are wrong, and nearly everyone experiences a diagnostic error at some point. This is especially true for Ehlers-Danlos patients who often wait years for proper diagnosis. | Web link / PDF link |
Ehlers-Danlos Syndrome (EDS) general research
| Paper Title | Authors | Year | Summary | Direct Links |
|---|---|---|---|---|
| Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type | Fransiska Malfait et al. | 2010 | Detailed study of classic EDS, focusing on stretchy skin, fragile and soft skin, slow wound healing with unusual scars, easy bruising, and very flexible joints. | Web link / PDF link |
| Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder | Marco Castori | 2012 | Explains that hypermobile EDS is likely the most common inherited connective tissue disorder but is not recognized often enough by doctors. | Web link / PDF link |
| Hypermobile Ehlers-Danlos syndrome: Clinical description and natural history | Brad Tinkle et al. | 2017 | Describes hypermobile EDS as probably the most common inherited connective tissue disorder, with main problems being overly flexible joints that dislocate easily. | Web link / PDF link |
| An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome | Anne Martin | 2019 | A critical review designed to get people thinking about what causes hypermobile EDS, how to diagnose it, and how to treat it effectively. | Web link / PDF link |
| The lived experience of Joint Hypermobility and Ehlers-Danlos Syndromes: a systematic review and thematic synthesis | 2019 | Study using established research methods to understand what it's really like to live with joint hypermobility and EDS from the patient's perspective. | Item is paywalled; PDF link will be available once we can acquire a full-text copy of this paper. | |
| A review of Ehlers-Danlos syndrome | Erin Miller / John M. Grosel | 2020 | Overview covering the main signs of EDS: fragile tissues, overly flexible joints, and stretchy skin. Explains what doctors look for when diagnosing EDS. | Web link / PDF link |
| Physical therapy treatment of hypermobile Ehlers-Danlos syndrome: A systematic review | 2021 | Systematic review of different physical therapy techniques that can help both children and adults with hypermobile EDS manage their symptoms. | Item is paywalled; PDF link will be available once we can acquire a full-text copy of this paper. | |
| The psychological burden associated with Ehlers-Danlos syndromes: a systematic review | Matthew Kennedy et al. | 2022 | Comprehensive look at mental health issues that are common in people with EDS, examining how often psychiatric conditions occur in EDS patients. | Web link / PDF link |
| Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities | Maria Jose Fajardo-Jimenez et al. | 2022 | Case study of a woman with muscle-type EDS who took 40 years to get properly diagnosed, plus a review of current research on EDS | Web link / PDF link |
| Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders | National Academies of Science, Engineering and Medicine et al. | 2022 | Comprehensive overview explaining that EDS are inherited disorders affecting connective tissue, with joint hypermobility and skin problems being common features. | Web link / PDF link |
| Ehlers-Danlos Syndrome | Tyler Miklovic / Vanessa C. Sieg | 2023 | A comprehensive medical reference covering all types of EDS. Estimates that EDS affects between 1 in 5,000 to 1 in 100,000 people depending on the specific type. | Web link / PDF link |
| A narrative review of the literature on illness uncertainty in hypermobile ehlers-danlos syndrome | Estee CH Feldman et al. | 2023 | Review highlighting how the uncertainty about illness in hypermobile EDS is different from other chronic pain conditions, especially in how it affects patients. | Web link / PDF link |
| Research advances in understanding the etiology, epidemiology, pathophysiology, clinical features, and management of the Ehlers Danlos syndrome disorders | Frontiers in Medicine | 2024 | Frontiers in Medicine devoted an entire issue to EDS research in 2024. The links here are for the editorial introducing the research, followed by the open-access collection of 9 articles with the collected research. | Web link to editorial / Web link to eCollection |
Cranial Cervical Instability (CCI) general research
| Paper Title | Author(s) | Year | Summary | Direct Links |
|---|---|---|---|---|
| Craniocervical Instability in Ehlers-Danlos Syndrome—A Systematic Review of Diagnostic and Surgical Treatment Criteria | Laura-Nanna Lohkamp | 2022 | Comprehensive review of how doctors diagnose CCI in EDS patients and what criteria they use to decide on surgical treatment. | Web link / PDF link |
| Craniocervical instability in patients with Ehlers-Danlos syndrome: controversies in diagnosis and management | 2022 | Examination of disagreements in the medical community about how to diagnose and treat CCI in EDS patients who have loose ligaments and overly flexible neck vertebrae. | Item is paywalled; PDF link will be available when we can obtain a copy of the full-text edition. | |
| Presentation and physical therapy management of upper cervical instability in patients with symptomatic generalized joint hypermobility: International expert consensus recommendations | Leslie Russek et al. | 2022 | International expert agreement on how physical therapy should be used to treat upper neck instability, noting CCI affects brain nerves, motor control, and brainstem function. | Web link / PDF link |
| Reference values of four measures of craniocervical stability using upright dynamic magnetic resonance imaging | Leslie L. Nicholson et al. | 2023 | Research establishing normal ranges for measurements used to diagnose craniocervical instability using special MRI scans taken while patients are sitting up. | Web link / PDF link |
| Craniocervical instability in patients with Ehlers-Danlos syndromes: outcomes analysis following occipito-cervical fusion | Fraser C. Henderson et al. | 2024 | Study of CCI in conditions where ligaments are weakened, including connective tissue disorders. Analyzes results after surgical fusion of skull to neck vertebrae. | Web link / PDF link |
| The Management of Cranial Cervical Instability: A Comprehensive Review of Conservative and Surgical Strategies | 2024 | Review covering the full range of treatments from conservative management (physical therapy, neck braces) to surgery, focusing on muscle strengthening and stabilization. | Item is paywalled; PDF link will be available when we can obtain a copy of the full-text edition. |
Research collated by Jared Buck, Secretary/Operations Coordinator; ops@inclusivibe.org.