Patricia Inácio, PhD,  science writer—

Patients with mutations in either the COL1A1 or COL1A2 genes, which provide instructions for making a specific collagen protein, may show symptoms of both Ehlers-Danlos syndrome (EDS) and osteogenesis imperfecta (brittle bone disease), a retrospective study shows. Researchers propose that this overlap is a missing EDS type. The study ”…

Routine heart tests and echocardiography — a non-invasive test that uses sound waves to create moving pictures of the heart — may not be necessary for patients with hypermobile Ehlers-Danlos syndrome (hEDS) who have no family history of heart problems, a small study reports. The study, “Utilization of echocardiography in Ehlers‐Danlos syndrome,”…

Despite similar clinical symptoms among kyphoscoliotic Ehlers-Danlos syndrome (kEDS) patients carrying mutations in the PLOD1 or FKBP14 genes, the molecular pathways underlying the disease may be different in each case, according to a new study. The study, “Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1-…

Psychiatric disorders, namely depression, may affect almost half of patients with Ehlers–Danlos syndromes (EDS) and hypermobility spectrum disorder (HSD). Also, mental health problems may be associated with pain and gastrointestinal dysfunction in these patients, a study shows. These findings, researchers contend, support the need to screen for mental health…

Evaluation of the ability of a person to move his or her shoulder with an upward arm movement could help demonstrate joint hypermobility associated with Ehlers-Danlos syndrome (EDS), a study suggests. The study, “Gleno-humeral abduction measurement in patients with ehlers-danlos syndrome,” was published in the journal…

Gene expression analysis of skin cells identified several molecular pathways deregulated in classical Ehlers-Danlos syndrome (cEDS) patients, which may open new avenues for therapeutics, according to a new study. The study, “Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts,” was…

A gene expression analysis identified several deregulated pathways in fibroblasts from classical Ehlers-Danlos syndrome (EDS) patients, offering new insights for future studies investigating the disease mechanisms and potential therapies, a study reports. The study, “Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of…

Patients diagnosed with periodontal Ehlers-Danlos syndrome (EDS) may also have changes in the brain’s white matter, which makes up the tissue in the brain and spinal cord, a case series reports. Periodontal EDS is the rarest form of EDS, and is characterized by severe early-onset gum disease. The…

Approximately two in five children and adolescents with Ehlers-Danlos syndrome experience impaired breathing during sleep, a condition called obstructive sleep apnea (OSA), a study reports. The condition increases daytime sleepiness and sleep-related breathing disorders, which reduce the quality of life. The study, “Obstructive Sleep Apnoea in Children and Adolescents…

Nearly half of patients with vascular Ehlers-Danlos syndrome experience gastrointestinal injuries, but men seem to carry an increased risk and severity than women, a 17-year retrospective study shows. The study, “Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: a 17-year retrospective review,” was published in the Journal…