Prolotherapy, a type of regenerative medicine, may be a promising option to treat sacroiliac joint instability in people with Ehlers-Danlos syndrome (EDS), according to a small study. Treatment reduced self-reported pain in the sacroiliac joint, where the spine meets the pelvis, and improved the functional outcomes of patients,…
Mutations in the B3GALT6 gene, a cause of spondylodysplastic Ehlers-Danlos syndrome (spEDS), disrupt the maturation of a type of collagen protein, undermining the structure and strength of connective tissue, according to a new study. These findings “may have a significant impact on the clinical expression of spEDS and advance…
A 25-year-old man’s perforated colon was the result of an undiagnosed case of vascular Ehlers-Danlos syndrome (vEDS), according to a case study from Portugal. “In the absence of colonic disease and with clinical manifestations of connective tissue disorders, a genetic investigation for vEDS should be conducted, even in individuals…
Nearly every person with hypermobile Ehlers-Danlos syndrome (hEDS) had reduced blood flow in the brain when they stood up, a phenomenon linked with orthostatic intolerance, that is, symptoms such as dizziness on standing up from sitting or lying down, a study shows. Hallmark features of hEDS, the most common…
People with hypermobile Ehlers-Danlos syndrome (hEDS) show signs of dysfunction in small nerve fibers, those that detect pain and temperature and regulate automatic body functions such as heart rate and blood pressure, according to a small study. A loss of small nerve fiber function was more pronounced in hEDS…
Abnormally arranged collagen fibrils, the protein building blocks of connective tissue, in the colon may help explain gastrointestinal problems in people with the rare musculocontractural form of Ehlers-Danlos syndrome (EDS), a mouse study suggested. Researchers noted that the defective collagen assembly seen in the colon of these mice is…
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…
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