Welcome to Research Roundup, a new series sharing recent research on the Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD). This roundup includes four studies across different types of EDS.
Floppy infant syndrome as the first manifestation of FKBP14-related kyphoscoliotic Ehlers–Danlos syndrome
A case report followed a child from birth to age five, describing low muscle tone (hypotonia) as the first sign of kyphoscoliotic Ehlers-Danlos syndrome (kEDS). Genetic testing identified a variant in the FKBP14 gene, supporting the diagnosis of kEDS.
This case report highlights the need to consider heritable connective tissue disorders in the differential diagnosis of hypotonia in children. It also outlines the role of early diagnosis and multidisciplinary care in supporting management of hypotonia and other features of kEDS.
Authors: Melnyk A, Kwiatkowska P, Marzec A, Łukasiewicz O
DOI: 10.5603/cnne.109921
Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series
A UK-based study reviewed cases of people who experienced spontaneous coronary artery dissection (SCAD), with and without genetically confirmed vascular Ehlers-Danlos syndrome (vEDS). The study explored whether clinical features could help identify people with SCAD who may need genetic testing.
The study found some differences in age, sex, and clinical features between people with and without vEDS, but these were not reliable enough to distinguish between them. The findings suggest that clinical features alone may miss some cases of vEDS, and that genetic testing in people with spontaneous coronary artery dissection could support diagnosis, management, and family screening.
Authors: Ghali N, Angwin C, Liebert S, Deaner A, von Klemperer K, Wheeldon N, Johnson D, Sobey G, Samani N, Webb T, Baranowska A, Velvet A, Keigwin S, Baker D, Read K, van Dijk F, Adlam D.
DOI: 10.1038/s41431-026-02074-1
Sex differences in aortopathy, arteriopathy, and mortality in vascular Ehlers-Danlos syndrome
A study of 557 people with genetically confirmed vEDS examined differences in vascular features and mortality risk between males and females. The study looked at whether sex is associated with differences in disease presentation and outcomes.
Males with vEDS had higher rates of diseases affecting the aorta and other arteries, and a higher overall mortality risk than females. These findings suggest the features of vEDS may vary by sex, which may help inform monitoring, management, and future research.
Authors: Elhance A, Lian T, Mahoney R, Huntley D, Holmes K, Russo M, Wiszniewski W, Byers P, Shalhub S.
DOI: 10.1016/j.jvs.2026.01.018
Patients with Ehlers-Danlos syndrome experience reduced effectiveness of lidocaine local anesthetic: a randomized cross-over clinical trial
A randomized study compared how lidocaine local anesthetic works in people with and without Ehlers-Danlos syndrome (EDS). The study aimed to assess whether lidocaine is less effective in people with EDS.
People with EDS reported more sensation and a shorter duration of numbness after lidocaine. This supports previous reports that local anesthetics may be less effective for people with EDS and HSD. These results may be relevant for clinical care and highlight the need for further research into dosing, duration, and pain management approaches for people with EDS and HSD.
Authors: Bourne K, Thai S, Lei L, Siddiqui T, Black B, Peltier A, Paranjape S, Shibao C, Biaggioni I, Okamoto L, Sheldon R, Raj S.
