Anna Junkiert-Czarnecka
miRNA in Ehlers-Danlos Syndrome Diagnostics (MIRED)
Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun
Bydgoszcz, Poland  

Next-generation sequencing (NGS) is the best tool for diagnosing different types of EDS because of the varied symptoms that can overlap between types. However, NGS is expensive and often not covered by insurance, leaving some patients undiagnosed or misdiagnosed.  

The “miRNA in Ehlers-Danlos Syndrome Diagnostics (MIRED)” project aims to develop a more affordable and accessible diagnostic method. By measuring specific microRNAs (miR29a, miR29b, and miR29c) in a simple blood test, this approach could help identify mutations linked to certain types of EDS. This method would make diagnosis quicker, less expensive, and more widely available to patients.  

Clair Francomano
Phenotypic Relationship Between Dercum Disease and Hypermobile Ehlers-Danlos Syndrome
Indiana University
Indiana, USA  

So far, joint hypermobility has been noted in some patients and families with Dercum disease or angiolipoma, but this connection hasn’t been thoroughly studied. The goal of this study is to determine whether people with Dercum disease or angiolipoma, who also have generalized joint hypermobility, may have hypermobile Ehlers-Danlos Syndrome (hEDS) or another related condition.  

Dercum disease is a rare condition that causes painful growths of fatty tissue (lipomas or angiolipomas) on the body, often along with other health issues. The cause of Dercum disease is still unknown, and while removing the lipomas can help with pain, new ones often develop. This study will be a first step in exploring the genetic links between joint hypermobility, Dercum disease, and angiolipoma, laying the groundwork for a larger study to better understand these connections.

Cortney Gensemer
Investigating the Molecular Relationship Between Mast Cell Activation Disorders and the Ehlers-Danlos Syndromes
The Medical University of South Carolina
South Carolina, USA  

A common and challenging condition seen in people with EDS is mast cell activation syndrome (MCAS). MCAS involves an abnormal reaction of mast cells, immune cells found in connective tissue, leading to symptoms ranging from allergic reactions to severe issues like anaphylaxis. This study aims to explore the link between MCAS and EDS, with the goal of finding new ways to manage and treat these complex symptoms.  

Dmitry Rozenberg
Characterizing the Content and Quality of Internet Resources on Exercise Training in Ehlers-Danlos Syndrome (EDS) and Generalized Hypermobility Spectrum Disorder (G-HSD)
University Health Network, Toronto General Hospital
Toronto, ON, Canada  

Exercise training can help manage symptoms like joint instability, dislocations, fatigue, and chronic pain. While many people turn to the internet for health information, the quality of online resources for exercise training in EDS and HSD is not well understood. Poor quality or outdated information can lead to harmful practices or incorrect self-diagnosis.  

Given the importance of virtual care, especially with the rise of hybrid exercise programs, it’s essential that people trust the online resources they use. This study aims to evaluate the readability, content, and quality of these online resources and compare them across EDS types. By identifying gaps and proposing evidence-based recommendations, the researchers hope to help patients and healthcare providers make informed decisions about exercise programs that enhance quality of life.  

Fransiska Malfait
Developing the HCTD Screening Tool for the General Practitioner: When to Refer a Hypermobile Patient to a Center of Genetics for Diagnosis?
Ghent University Hospital
Ghent, Belgium  

The healthcare costs associated with hypermobility are high. Effective symptom management requires specialist referrals and multidisciplinary care, but getting a diagnosis often takes a long time.  

General practitioners face challenges in referring patients with joint hypermobility to the appropriate diagnostic pathways. Many patients are initially sent to centers for Medical Genetics to rule out heritable connective tissue disorders (HCTDs), which are linked to severe complications. However, only a small percentage of these patients have a genetic defect, leading to long waits and delays in diagnosis.  

To address this, the research team is developing a screening tool to assess the risk of an underlying HCTD. This tool scores signs and symptoms like skin characteristics, skeletal features, and family history. It aims to shorten genetic center waiting lists, reduce healthcare costs by avoiding unnecessary tests, and ensure that patients with HSD and hEDS receive specialist care sooner.  

The tool also provides a visual overview of a patient’s symptoms, helping to identify genotype-phenotype relationships in HCTDs, differentiate between hEDS and HSD, and understand the diversity within patients with the same diagnosis.  

Jane Simmonds
Development and Initial Validation of the Spider, a Multisystemic Symptom Impact Questionnaire for Patients with Hypermobility-Related Disorders
University College London
London, England  

People with joint hypermobility often experience widespread chronic pain, fatigue, and joint instability, but their symptoms can vary greatly and affect more than just the musculoskeletal system. Non-musculoskeletal symptoms, such as orthostatic intolerance, digestive issues, and urinary incontinence, are also common and can significantly impact quality of life.  

To better understand and manage these symptoms, an international research group is developing “The Spider,” a 31-item questionnaire that evaluates the impact of key symptoms associated with HSD/hEDS. The questionnaire covers eight domains and produces a visual “spider web” graph, giving healthcare professionals a clear overview of a patient’s symptom profile. This tool will help prioritize treatment in a multidisciplinary setting.  

The Spider has already shown promising results in adolescents, with studies validating its domains related to pain, fatigue, anxiety, depression, and other symptoms. The next step is to validate the tool with adults and assess its reliability and structure. 

Jessica Eccles
Variant Connective Tissue: A Risk Factor for Long COVID
Brighton and Sussex Medical School
Hove, England  

This study will explore whether hypermobility and connective tissue disorders, including EDS, increase the risk of developing Long COVID. The researchers of this study believe that Long COVID may present a specific sub-phenotype in individuals with HSD and EDS that has not yet been fully recognized.  

Previous research has identified several risk factors for Long COVID, such as female gender, age, smoking history, BMI, and other pre-existing conditions. However, these studies often overlook the role of hypermobility and connective tissue disorders, which are frequently underdiagnosed and not routinely assessed in clinical settings.  

To address this gap, their study will use the validated 5PQ questionnaire to assess hypermobility in participants and gather data on pre-existing conditions common in people with connective tissue disorders, such as neurological and autoimmune issues. By collecting information on symptoms before and after COVID exposure, they aim to better understand the relationship between connective tissue disorders and Long COVID.  

Previous studies have found a high prevalence of hypermobility in individuals with conditions like ME/CFS and Fibromyalgia. If their findings support the hypothesis, it could lead to a deeper understanding of how connective tissue disorders contribute to Long COVID, potentially guiding future research on mechanisms and treatments for affected individuals.

Qasim Aziz
The Development of a Not-for-Profit Textbook Describing the Management of Gut Problems in hEDS/HSD
Barts and The London School of Medicine and Dentistry
London, England  

The Aziz group has shown that people with hEDS/HSD are more likely to experience a range of gastrointestinal problems, especially disorders of gut-brain interaction, compared to those without these conditions. In a significant study, 33% of patients at the Royal London Hospital’s gastroenterology clinics were found to have hEDS/HSD, a finding that has been replicated worldwide. Gastrointestinal issues are also common in related conditions like dysautonomia and MCAS.  

People with hEDS/HSD often have to travel long distances to find healthcare professionals who understand their gastrointestinal issues, leading to high costs and long wait times. The lack of high-quality, evidence-based information on the internet further complicates their search for reliable guidance, which can negatively impact their health.  

To address this, the researchers aim to collaborate with patient advocates and organizations like The Ehlers-Danlos Society to create a not-for-profit, patient-friendly textbook on gut issues related to hEDS/HSD, including nutritional guidance. The book will help improve patient education, healthcare outcomes, and quality of life. Profits will be reinvested into further research at the Wingate Institute of Neurogastroenterology, Queen Mary University of London, to continue studying these gastrointestinal challenges.

Tessa Hulburt
The Effect of a Combined Neuromuscular Training and Cognitive Behavioral Therapy Program on Physical Fitness, Strength, and Movement Biomechanics in Adolescents with Hypermobile Ehlers-Danlos Syndrome and Fibromyalgia Syndrome
Emory University School of Medicine  

The wide range of symptoms and complex pain sources in hEDS make treatment challenging. Emerging therapies that combine cognitive behavioral therapy (CBT) with movement-based approaches show promise, but the lack of formal guidelines makes these treatments largely inaccessible.  

To address this need, researchers aim to adapt an existing program, the Fibromyalgia Integrative Training program for Teens (FIT Teens), which has shown success in treating adolescent fibromyalgia. This program has demonstrated high participant retention, improved physical function, and safer movement without worsening pain. Given the similarities in pain presentation between hEDS and fibromyalgia, they believe that the FIT Teens program could benefit hEDS patients as well.  

However, the unique challenges of hEDS, such as joint hypermobility and proprioception deficits, may affect how patients respond to this program. They propose a secondary analysis of FIT Teens data to compare changes in physical fitness, strength, and movement biomechanics between fibromyalgia patients and those who also meet the criteria for hEDS. This analysis will provide valuable insights to support the development of a tailored CBT and neuromuscular intervention specifically for the hEDS population.  

Dr. Marco Ritelli, University of Brescia, Italy. 

Hypermobile Ehlers-Danlos syndrome (hEDS) is marked by joint hypermobility, musculoskeletal pain, and systemic issues, often leading to chronic disability without a known molecular cause. Diagnosis is challenging, relying on exclusion-based criteria, and many patients who don’t meet these criteria are classified as having hypermobility spectrum disorders (HSD). Due to overlapping symptoms and the lack of a validated diagnostic biomarker, hEDS and HSD are often used interchangeably, complicating the diagnostic process. This research project aims to address these challenges by using targeted serum proteomics to identify potential biomarkers in hEDS and HSD patients. The findings could clarify whether these conditions are part of a spectrum or distinct disorders, leading to better diagnostic and therapeutic strategies. The project has significant potential to improve patient care, reduce unnecessary treatments, and lessen the social and economic burden associated with prolonged and uncertain diagnoses.  

The Ehlers-Danlos syndromes are a group of inherited connective tissue disorders that can lead to skin fragility, joint problems, and severe complications like arterial rupture and bowel perforation. There are 14 identified types of EDS. Understanding the complications associated with each type is crucial for effective care and early diagnosis, which can prevent severe outcomes and improve patient quality of life. This research was partially funded by a microgrant from The Ehlers-Danlos Society.  

The Ehlers-Danlos syndromes are known to be associated with increased bleeding symptoms, including easy bruising, gum bleeding, and abnormal uterine bleeding. This bleeding is due to modifications in collagen that cause fragility of vessel walls, decreased support of those vessels, and affect the function of platelets (found in the blood, supporting healing, and important in helping to stop bleeding).   

However, bleeding and bruising in people with generalized joint hypermobility (GJH), hypermobility spectrum disorders, and hypermobile Ehlers-Danlos syndrome has not been well-defined, particularly within the pediatric and adolescent populations.    

As excessive bleeding symptoms could significantly impact overall health and quality of life, defining the general incidence and natural course of bleeding symptoms in this population are important. Early recognition in childhood or adolescence may help prevent bleeding and bruising concerns such as excessive bleeding during surgery or after trauma, and even incorrect diagnosis of physical abuse.   

Led by Dr. Nicole Kendel, member of the International Consortium on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders Hematology Working Group, a team from Akron and Columbus, Ohio, USA recently carried out research to assess bleeding symptoms in young people with generalized/benign joint hypermobility (GJH), compare bleeding scores to healthy historical pediatric controls, and determine whether a correlation exists between Beighton scores and bleeding scores.   

The research team assessed eighty-one children aged between 10 and 16 years old with GJH. Seventy-eight percent of participants had abnormal bleeding scores, with a mean bleeding score significantly elevated compared to healthy controls. Commonly observed bleeding symptoms were oral bleeding (74%), easy bruising (59%), and bleeding with minor wounds (42%).    

Bleeding scores did not depend on biological sex or nonsteroidal anti-inflammatory drug use, although there was a positive correlation with increasing age. Also, no correlation was found between a participant’s bleeding tendency and their Beighton score.   

Subsequently, the researchers propose that screening for bleeding symptoms should be integrated into routine care for people with GJH, with referral to hematology clinics for people with bleeding concerns.    

The paper in the Journal of the American Academy of Dermatology examines the prevalence and clinical features of the EDS types in dermatology practice. It highlights the importance of recognizing skin and soft tissue manifestations in EDS for early diagnosis and management. The study emphasizes the role of dermatologists in identifying EDS-related complications and improving patient outcomes through timely referrals and appropriate care. The findings underscore the need for increased awareness of EDS among dermatologists to better serve this patient population.