→ BREAKING NEWS: Study finds biomarker that could lead to a blood test for hEDS & HSD ←
Welcome back to the Research Round-Up, a summary of medical news you can use. We’ve got a lot of great research for you this month, so giddy up and git going! Yee-haw!
If you have an article you’d like to see in Research Round-Up, submit it to kate@chronicpainpartners.com.
Looking for more resources about Ehlers-Danlos Syndrome? Check out the EDS411 Living Library!
Temporomandibular Joint (TMJ) Disorders
“Risk factors associated with symptoms of temporomandibular disorders among women with hypermobile Ehlers-Danlos syndrome: Questionnaire-based study in Finland and Sweden”
Published in the Journal of Oral Rehabilitation on April 25, 2024 | Link to full text article
Research by Negin Yekkalam, Mehmed Novo, Måsten J. Tryberg, and Kirsi Sipilä
and
“Treatments related to temporomandibular disorder among patients with prevalent types of Ehlers-Danlos Syndrome in Sweden”
Published in the Journal of Craniomandibular & Sleep Practices on February 28, 2024 | Link to full text article
Research by Negin Yekkalam, Mehmed Novo, and Anders Wänman
Summary: These two separate, but related studies, discuss the risk factors and treatments for temporomandibular joint dysfunction (TMD) in Nordic populations. The first study looked at 185 women in both Sweden and Finland who were members of the National EDS Association. Ninety-eight percent (98%) of the participants reported TMD symptoms, and 95% reported TMD pain. The most common symptoms were temporomandibular joint (TMJ) clicking (90%) and jaw fatigue (80%), with TMJ crackling or rattling (64%) and complete dislocation (44%) being the least common symptoms.
The second study looked at treatment for TMD and was done through a digital questionnaire. Members of the National Swedish EDS Association filled out the survey, and the 90% with TMD symptoms were separated into people with hypermobile EDS and classical EDS. The researchers would later note that there was no statistically significant difference between the two groups. The most common treatments they found were bite splint therapy, counseling, jaw training, and adjustments made to the biting or grinding part of the tooth.
Pediatrics
“Variability of joint hypermobility in children: a meta-analytic approach to set cut-off scores”
Published in the European Journal of Pediatrics on May 27, 2024 | Link to full text article
Research by Cylie M. Williams, James J. Welch, Mark Scheper, Louise Tofts, and Verity Pacey
Summary: While the Beighton score has been used to determine whether children have generalized joint hypermobility, the cut-off score is based on expert opinion rather than studies of hypermobility in children. This study looked at the Beighton scores of 28,868 children up to and including 18 years old that were published in 37 scientific articles. A Beighton score of equal to six or greater (≥ 6) resulted in 6% of the males and 13% of the female subjects in the reporting data being diagnosed with generalized joint hypermobility, and thus is the recommended threshold for children.
“The centrality of healthcare and education interactions – An Interpretive Phenomenological Analysis of experience of parents of children with Ehlers-Danlos Syndrome”
Published in Research in Developmental Disabilities in August 2023 | Link to full text article
Researched by Carol Somers, Chris McCusker, Paula Prendeville, Sinéad Kelleher
Summary: This paper analyzes interviews with four parents of teenagers with EDS to “examine the lived experiences of parenting a child with EDS.” Three of the four parents also have EDS or a related disease. Three themes and related sub-themes were found after analysis:
- Challenges associated with hEDS
- Psychological Impacts
- Pent-up Resentment
- Financial Strain
- Interactions with Professionals
- Stop Looking for Something Wrong
- Joining Forces
- Pulling and Pacing: Life with hEDS
- Fighting for Recognition
- Judgement from Others
- Inner Strength
While many of the struggles are similar to those faced by patients with EDS, the study demonstrates the need for more research, awareness, and advocacy to better support families and to help those families support the child with EDS. The results section of the paper is especially emotional and displays the frustrations of the teenagers through the eyes of their parents.
Related: EDS Awareness has all the back-to-school resources you need for a successful school year for your EDS student.
“High prevalence of gastrointestinal disorders in a large cohort of patients with joint hypermobility”
Published in the Journal of Pediatric Gastroenterology and Nutrition on May 15, 2024 | Link to full text article
Research by Vibha Sood, Ajay Kaul, Khalil I. El-Chammas, Vincent A. Mukkada, Qin Sun, Lin Fei, Neha R. Santucci
Summary: The presence of troubling gastrointestinal (GI) symptoms in people with hEDS and JHS is increasingly being recognized, and this study seeks to find which are most common in people with hEDS, joint hypermobility, and joint hypermobility syndrome (JHS), which is another name for hypermobility spectrum disorder (HSD). The researchers found 435 patients with hEDS, joint hypermobility, or JHS aged five to 28 years old, with 76% of the group being 18 years old or younger. Data on demographics, clinical history, symptoms, comorbidities, and diagnostic work was collected. They found the most common GI disorders in patients with hEDS, joint hypermobility, and JHS are inflammatory bowel disease, celiac disease, eosinophilic GI disease (diseases where there are too many white blood cells in the GI tract, which causes inflammation), complex abdominal pain, irritable bowel syndrome, trouble swallowing, and constipation. Eosinophilic disorders and celiac disease are found in more hEDS/JHS than in the general population, though the amount of celiac disease was lower in this group than what is usually found in adults. The authors encourage more study of treatment and how connective tissue affects the GI system.
GastrointestinalI/Nutrition
“Nutritional Considerations for Hypermobile Ehlers-Danlos Syndrome”
Published in Practical Gastro in May 2024 | Link to full text article
Research by: Cheryl Iny Harris, Dacre R.T. Knight, Lisa A. Mejia, and Laurie Bilyeu
Summary As a follow-up read to the previous study, this article discusses the prevalence of various types of GI disorders, including IBS, functional dyspepsia (upset stomach with no known cause), gastroparesis (a slowing of the GI tract), constipation, celiac disease, TMJ disorders, POTS, and mast cell activation disorders. There is also guidance for home treatment of these conditions in an easy-to-read chart that may help relieve symptoms and ensure sufficient vitamin and nutrient intake.
Related: What’s the difference between gluten intolerance, celiac disease, and mast cell activation syndrome?
Neurological
“Hypermobile Ehlers-Danlos syndrome and spontaneous CSF leaks: the connective tissue conundrum”
Published in Frontiers in Neurology on July 16, 2024 | Link to full text article
Research by Sydney Severance, Victoria Daylor, Taylor Petrucci, Cortney Gensemer, Sunil Patel, Russell A. Norris
Summary: Coming from the Medical University of South Carolina, this paper examines how the “abnormalities in collagen associated with connective tissue disorders (CTD) can lead to neuroinflammation and weaken the blood-brain barrier (BBB).” The blood-brain barrier is a membrane made of connective tissue that separates the cerebrospinal fluid (CSF) that surrounds the brain and spinal cord from the blood stream—it keeps the good stuff in the brain cavity and keeps the bad stuff out, according to the Cleveland Clinic. If this barrier is affected by weak collagen, it can worsen conditions of the nervous system, like cognitive impairment, sensory disturbances, headaches, sleep issues, and psychiatric symptoms. This paper explores the connections between collagen, CSF, inflammation, and the BBB to potentially connect neurological disease with connective tissue abnormalities.
Bonus article: How expensive is EDS? Cortney Gensemer, Ph.D., a post-doctoral scholar in the Norris Lab at the Medical University of South Carolina, explains new research about the “excess cost burden” of EDS.
Vascular EDS
“Vascular Ehlers-Danlos syndrome and pregnancy: A systematic review”
Published in BJOG: An International Journal of Obstetrics and Gynaecology on June 26, 2024 | Link to full text article
Research by Théo Haem, Betty Benson, Amandine Dernoncourt, Jean Gondry, Jean Schmidt, and Arthur Foulon
Summary: As most people with vascular Ehlers-Danlos syndrome know, pregnancy can be a challenge. These researchers looked for scholarly articles that discussed pregnancy outcomes in people with vEDS. They ended up with a sample size of 412 pregnancies. The people in this sample included 30% who were infertile, a miscarriage rate of 13.8%, and an 8.8% rate of premature births. Ectopic pregnancies were lower in women with vEDS than in the general population. Obstetric anal sphincter injuries (third- and fourth-degree perineal tears) happened in 11.3% of the deliveries, and the maternal mortality rate was 5.7%, all related to a vascular or uterine rupture. The researchers found that pregnant people with vEDS, in addition to having an elevated risk of uterine and vascular rupture, digestive perforation, and death, are most at risk during the peripartum period, which they defined as the delivery and shortly thereafter. A caesarean section should be scheduled at 37 weeks to avoid “expulsive efforts.” The parent and child should also be monitored during the post-partum period, as complications can also arise after the baby is delivered.
Cardiovascular/POTS
“A Cross-Sectional Study of Cardiovascular Autonomic Reactivity in Ehlers-Danlos Syndrome”
Published in Cureus on July 14, 2024 | Link to full text article
Research by Waqas Alauddin, Shahnawaz Alam, Mohit Mishra, Prajakta M. Radke, Rishika Shree, Brishabh R. Prajesh, Aparna Chaturvedi, Anant Patil, Tarun Kumar Singh, and Malik Faizan Ahmad
Summary: Many people with EDS are also affected by dysfunction of the autonomic nervous system, or dysautonomia. Dysautonomia is difficult to diagnose, so these researchers decided to see if non-invasive cardiovascular reflex tests could “assess autonomic reactivity” in patients with EDS. Thirty patients with EDS and thirty patients without EDS between the ages of 18 and 25 were subjected to cardiovascular reflex tests, like the delta heart rate, lying-to-standing test (also known as the tilt-table test), deep breathing test, cold pressor test, handgrip test, and Valsalva maneuver. They found a potential link between EDS and autonomic dysfunction in three ways: the sympathetic nervous system got excited, the parasympathetic nervous system was quiet, and there were two observable features: a fast heart rate and low blood pressure. This led the researchers to conclude that the cardiovascular reflex tests could be used to test patients for autonomic dysfunction and perhaps provide insight into long-term cardiovascular complications due to EDS.
Related: Everything you’ve ever wanted to know about dysautonomia and EDS
Diagnosis
“An exploration of the journey to diagnosis of Ehlers-Danlos Syndrome (EDS) for women living in Australia”
Published in PLOS ONE on July 25, 2024 | Link to full text article
Research by Rachel Trudgian and Terri Flood
Summary: This study looked at the path to diagnosis for women in Australia who ended up being diagnosed with EDS. The researchers sent out a survey on Facebook and LinkedIn and received 152 responses. Like stories from the US and Europe, the journey to getting a diagnosis was long and traumatic. More than half of the women reported symptoms of EDS for over 15 years before getting a diagnosis. Three-quarters of respondents received other diagnoses prior to the EDS diagnosis. They expressed the need for medical providers to listen to their patients and for doctors to be better educated about EDS.
Related: Our clinician-associated trauma series discusses the challenges of receiving an EDS diagnosis as well as other ways that medical professionals harm patients psychologically
Bonus article: Susannah Fox’s book Rebel Health empowers patients to connect, speak up, and make changes to the healthcare system.
Joint Replacements
The following articles do not have full-text versions available to the public. However, since this is some of the recent research on joint replacements, we still want to give our readers a summary of what’s happening so if they need a joint replacement, they have the latest information.
“Total hip arthroplasty outcomes in Ehlers-Danlos patients: data from the Statewide Planning and Research Cooperative System”
Published in HIP International on April 15, 2024 | Link to abstract
Research by Ittai Shichman, Vinaya Rajahraman, Utkarsh Anil, Charles C. Lin, and Ran Schwarzkopf
Summary: In reviewing records of patients undergoing elective total hip arthroplasty (hip replacement) between September 2009 and December 2022 who also have EDS, the researchers found a total of 66 patients that met their criteria. They also selected a control group of patients who were like those with EDS in things like age, sex, other diagnoses, and more, but without EDS. The only difference in outcomes between the groups was that patients with EDS had a seven-fold higher risk of needing the hip arthroscopy redone, especially if the redo was due to instability.
“Outcomes of Total Knee Arthroplasty in Patients Who Have Ehlers-Danlos syndrome: A Matched Cohort Study”
Published in The Journal of Arthroplasty on May 29, 2024 | Link to abstract
Research by Andrew A. Fuqua, Jacob A. Worden, Janice M. Bonsu, MD, MPH, Bailey J. Ross, MD, and Ajay Premkumar, MD, MPH
Summary: Similar to the study above, the researchers found medical records of patients who underwent a total knee arthroscopy (knee replacement) between 2009 and 2020 who also have EDS. They also found a matched control group, meaning they found patients like those with EDS—age, sex, other diagnoses, and more—without EDS. The patients with EDS had a higher rate of wound complications (4.8% vs. 0.9%) in the 90 days after surgery. There were no other significant differences between the patients with EDS and those without.
“Outcomes of Total Hip Arthroplasty in Patients Who Have Ehlers-Danlos Syndrome: A Matched Cohort Study”
Published in The Journal of Arthroplasty on July 11, 2024 | Link to abstract
Research by Andrew A. Fuqua, Jacob A. Worden, Bailey Ross, Janice M. Bonsu, MD, MPH, and Ajay Premkumar, MD, MPH
Summary: The same researchers who looked at the outcome of knee replacements also looked at hip replacements in patients with EDS. They looked for patients who had a total hip arthroplasty (hip replacement) between 2009 and 2020. One hundred and eighteen (118) patients with EDS were found and matched with controls (similar patients without EDS). The results showed that at 90 days after the surgery, patients with EDS had a greater chance of dislocation (8.5% vs. 3.8%). After two years, patients with EDS had a greater chance of dislocation, aseptic loosening, and aseptic revision (aseptic meaning “without an infection” and revision meaning “to redo the surgery”). Slightly different results than the first hip replacement article.
“10-Year Cumulative Incidence and Indications for Revision Total Joint Arthroplasty for Patients Who Have Ehlers-Danlos Syndrome”
Published in The Journal of Arthroplasty on June 25, 2024 | Link to abstract
Research by Sanjay Kubsad, BS, Samalya Thenuwara, BS, William Green, BS, Shyam Kurian, MD, Arman Kishan, MBBS, Andrew B. Harris, MD, Gregory J. Golladay, MD, and Savyasachi C. Thakkar
Summary: This research looked at the rate of total hip arthroplasties (hip replacements) and total knee arthroplasties (knee replacements) that needed to be redone in patients with EDS and patients without EDS during the 10 years after the surgery. What they found aligns with the research above: patients with EDS had a higher risk of needing both surgeries redone for any reason, as well as a higher rate of needing the surgery redone due to instability. Hip replacements in patients with EDS also had to be redone more frequently due to mechanical loosening.
Kate Schultz
September 2024
