Steve Bryson, PhD,  science writer—

An unusual mutation in the PLOD1 gene caused kyphoscoliotic Ehlers-Danlos syndrome (kEDS) type 1 in a 7-year-old boy, a case study reported. Instead of a skin biopsy to investigate the clinical effect of this mutation, researchers used whole blood samples because PLOD1, unlike the genes that cause other types…

People with classical-like Ehlers-Danlos syndrome type 1 (clEDS1) have an increased risk of gastrointestinal tract (GI) complications, according to a new case series. Ten of the 15 investigated patients had at least one spontaneous intestinal perforation and nearly all had diverticulosis, or small pouches that push outward through weak…

Two years of daily irbesartan, a long-acting oral blood pressure medication, reduced the risk of severe arterial events by 50% in adults with vascular Ehlers-Danlos syndrome (vEDS). That’s according to the results of the Phase 3 ARCADE (NCT02597361) trial, which tested the medicine on a background of celiprolol,…

More than half of children with vascular Ehlers-Danlos syndrome (vEDS) are diagnosed through genetic testing after a family member is found to have the disease, a study found. The remaining patients receive their diagnosis following a serious clinical event that requires medical intervention or due to having certain clinical…

Within three months of an Ehlers-Danlos syndrome (EDS) diagnosis, many patients and their parents felt there was a lack of related educational materials, which was a barrier to their knowledge and comfort in managing the condition, according to a new survey study conducted by U.S. researchers. The respondents also…

Scientists have discovered three subgroups related to different gastrointestinal problems among people with hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorder (HSD), a study reveals. Some people had hEDS or HSD without the symptoms, while others also had irritable bowel syndrome (IBS), a condition associated with abdominal cramps, bloating,…

In a new study, parents highlight the challenges of raising children with hypermobile Ehlers-Danlos syndrome (hEDS), including emotional distress, difficulties interacting with healthcare professionals, and struggles accessing medical and psychological support. Researchers stress the need for family-focused interventions to improve the physical and psychological health of hEDS children and…

Two brothers with kyphoscoliotic Ehlers-Danlos syndrome (kEDS) had a spontaneous abdominal aneurysm, a ballooning of blood vessel walls, which was successfully corrected with surgery, according to a case report. kEDS is one of 13 types of EDS, a group of genetic disorders that affect the connective tissues, which…

A survey of adults with hypermobile Ehlers-Danlos syndrome (hEDS) found that receiving a diagnosis led to a sense of relief, helped patients manage their symptoms and prepare for the future, and had a positive impact on their quality of care, support network, and overall well-being. Still, more than half…

Telitacicept, an anti-inflammatory medication, successfully treated a woman with arthrochalasia Ehlers-Danlos syndrome (aEDS), a case study reports. Researchers speculated the disease-causing mutation that led to defective collagen protein may have triggered an immune response that worsened her symptoms, which were then reduced upon telitacicept treatment. The case study, “…