Research in the Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) community has been busy recently, with studies covering genetics, clinical features, and approaches to care.
This Research Roundup includes eight studies on classical-like Ehlers-Danlos syndrome, vascular Ehlers-Danlos syndrome, classical Ehlers-Danlos syndrome, hypermobile Ehlers-Danlos syndrome, and hypermobility spectrum disorders.
Insights into TNXB-Related Classical-Like Ehlers-Danlos Syndrome: A Study of Polish Patients
A study of two adolescents in Poland used multiple sequencing methods to identify variants in the TNXB gene and support diagnosis of classical-like Ehlers-Danlos syndrome. The study identified previously unreported TNXB gene variants in both individuals, supporting the genetic basis of their classical-like Ehlers-Danlos syndrome diagnosis.
These findings add to the current understanding of classical-like Ehlers-Danlos syndrome. Further research is needed to understand how these variants relate to clinical features.
Authors: Junkiert-Czarnecka A, Pilarska-Deltow M, Kacprzak M, Łobodzińska A, Sobczyńska-Tomaszewska A, Linkowska K, Grzybowski T, Haus O
Bilateral Optic Neuritis and Multiple Nerve Sheath Tumors in a Patient With Genetically Characterized Ehlers-Danlos Syndrome: A Rare Co-occurrence
A case report described a 26-year-old woman with classical-like Ehlers-Danlos syndrome who presented with visual symptoms. Imaging was used to investigate the underlying cause. An MRI showed a rare co-occurrence of optic neuritis and multiple nerve sheath tumours. These findings suggest that comprehensive imaging may help identify complex or overlapping neurological features.
Authors: Larios A․ B, Mendoza Blandón M, Barahona Vargas S, Romero Ríos C
DOI: 10.1016/j.radcr.2026.02.074
Returning to Exercise After Valsalva-Induced Carotid Artery Dissection
A case report described a structured exercise program in a 19-year-old with vascular Ehlers-Danlos syndrome. The researchers explored whether a gradual, low-to-moderate intensity exercise plan could be used safely following an internal carotid artery dissection.
They responded well to a gradually progressing low-to-moderate intensity exercise program, which was associated with improved fitness and quality of life. These findings suggest that exercise programs may be considered for some people with vascular Ehlers-Danlos syndrome after arterial events, with appropriate monitoring. Further research is needed to develop clear guidance for practice.
Authors: Gutzwiller L, Carlisle A, Sharifi D, Tayon K, DeMatas K, Phillips S, Erben Y, Dineen E, Shapiro B, Taylor B
DOI: 10.1016/j.ijcchd.2026.100671
Pregnancy in Women With Vascular Ehlers-Danlos Syndrome: A Case Series From the Registry of Pregnancy and Cardiac Disease (ROPAC) III
A case series examined pregnancy outcomes in six people with vascular Ehlers-Danlos syndrome enrolled in an international registry. During the study, no maternal deaths, aortic dissections, or changes in aortic size were reported. However, obstetric complications were common, including preterm birth and hemorrhage. These findings support the need for individualized genetic counseling and further research in larger groups.
Authors: Peters P, van der Zande J, Prakash S, Harris J, Troost E, Tobler D, Bouma B, Roos-Hesselink J
DOI: 10.1016/j.ijcchd.2026.100671
A Novel Deep Intronic COL5A1 Variant in an Ehlers-Danlos Syndrome Family: Functional Characterization by Minigene Assay
A case study investigated a person with a new COL5A1 variant. COL5A1 variants may disrupt normal protein production of type V collagen, potentially causing classical Ehlers-Danlos syndrome (cEDS).
The COL5A1 variant disrupted normal gene splicing, leading to a shortened protein that may not function as expected. These findings help explain how some genetic changes can lead to connective tissue disorders like cEDS. Further research is needed to understand whether this variant is always disease-causing or also found in healthy people.
Authors: Zhao J, Feng J
DOI: 10.1038/s41598-026-46346-8
Characterizing Initial Cervical Spine and Neurovascular Findings in 84 Consecutive Patients with Hypermobile Ehlers-Danlos Syndrome: A Retrospective Study.
A study assessed cervical spine and neurovascular features in adults with hypermobile Ehlers-Danlos syndrome (hEDS) using imaging and clinical measurements. The study identified cervical spine differences and smaller internal jugular vein and vagus nerve measurements in people with hEDS.
These findings suggest structural and neurovascular factors may relate to symptoms in hypermobile Ehlers-Danlos syndrome. Further research is needed to understand their clinical relevance.
Authors: Hauser R, Griffiths M, Watterson A, Matias D, Rawlings B
DOI: 10.3390/jcm15062212
The Investigation and Management of the Abdominopelvic Vascular Compression Syndromes in Patients with Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder
A systematic review examined possible links between abdominopelvic vascular compression syndromes, Ehlers-Danlos syndromes, and hypermobility spectrum disorders. The review found limited evidence suggesting associations between EDS, HSD, vascular compression syndromes, postural orthostatic tachycardia syndrome, and mast cell activation syndrome.
Symptoms of these conditions can overlap, which may complicate diagnosis and lead to delays in care. The authors highlight the need for multidisciplinary management and further research to better understand these relationships.
Authors: Bruessel P, Govender M, Frahm-Jensen G
DOI: 10.2147/VHRM.S592420
