Ehlers-Danlos News

January 17, 2022January 17, 2022

Family in China Has Two vEDS-causing COL3A1 Mutations

Ehlers-Danlos News

A family in China was found to carry two mutations causing vascular Ehlers-Danlos syndrome (vEDS) over multiple generations, a study reports. The mutations interacted such that their effect was beyond ... Read more

January 10, 2022January 10, 2022

Immune Dysfunction Common in Hypermobile EDS, Study Finds

Ehlers-Danlos News

Immune dysfunction — including abnormal activation of mast cells and antibody deficiency — is common among people with hypermobile Ehlers–Danlos syndrome (hEDS) and those with hypermobile spectrum disorder (HSD), according ... Read more

January 3, 2022January 3, 2022

Features of Musculocontractural EDS Described for 1st Time in Study

Ehlers-Danlos News

An international study involving the largest group of patients worldwide, to date, has for the first time detailed clinical and molecular features of the rare musculocontractural form of Ehlers−Danlos (EDS) ... Read more

December 20, 2021December 20, 2021

HEDGE Study Seeking hEDS Cause Invites 1,000 Patients to Enroll

Ehlers-Danlos News

A total of 1,000 people with hypermobile Ehlers-Danlos syndrome (hEDS) have been invited to enroll in an ongoing international study — called the Hypermobile Ehlers-Danlos Genetic Evaluation or HEDGE — ... Read more

December 13, 2021December 13, 2021

FDA Names AR101 Orphan Drug, Clears Way for Vascular EDS Trial

Ehlers-Danlos News

AR101 (enzastaurin), an orally available small molecule being developed to treat vascular Ehlers-Danlos syndrome (vEDS) by Aytu BioPharma, has been designated an orphan drug by the U.S. Food and Drug Administration ... Read more

December 6, 2021December 6, 2021

Tear in Colon of Young Adult Could Be Sign of Vascular EDS, Report Says

Ehlers-Danlos News

A spontaneous tear in the colon of an adult at younger ages could indicate vascular Ehlers-Danlos syndrome, a case study reports. The case, “Total colectomy in Vascular Ehlers Danlos syndrome a ... Read more

November 29, 2021November 29, 2021

High Rates of Vulvodynia Likely in Women With EDS/HSD: Survey

Ehlers-Danlos News

Half of the women with Ehlers–Danlos syndrome (EDS) or hypermobile spectrum disorder (HSD) who took part in an online survey reported being affected by vulvodynia — a condition that causes ... Read more

November 22, 2021November 23, 2021

Stomach Perforation in Girl Leads to Her Classical EDS Diagnosis

Ehlers-Danlos News

A girl in Saudi Arabia was diagnosed with classical Ehlers-Danlos syndrome (cEDS) after a seemingly spontaneous perforation in her stomach wall, according to a case report. With increasing reports of ... Read more

November 15, 2021November 15, 2021

Overall Health, Muscle Strength Similar in hEDS and HSD, Study Says

Ehlers-Danlos News

Women with hypermobile Ehlers-Danlos syndrome (hEDS) show similar physical functioning, as well as muscle strength, density, and mass, compared with those with hypermobile spectrum disorder (HSD), a study found. However, ... Read more

November 8, 2021November 8, 2021

New COL3A1 Mutation Linked to Vascular EDS in Japanese Woman

Ehlers-Danlos News

A new mutation in the COL3A1 gene has been linked to vascular Ehlers-Danlos syndrome (vEDS) in a woman in Japan, scientists report. This genetic variant — which was not found among ... Read more

November 1, 2021November 3, 2021

NIH Study: Cost of Treating Rare Diseases ‘Large’ Relative to Other Ills

Ehlers-Danlos News

A retrospective study by the National Institutes of Health (NIH) suggests that healthcare costs for those with rare diseases have been underestimated, possibly being three to five times higher than ... Read more

October 29, 2021November 1, 2021

NIH Study: Cost of Treating Rare Diseases ‘Large’ Relative to Other Ills

Ehlers-Danlos News

A retrospective study by the National Institutes of Health (NIH) suggests that healthcare costs for those with rare diseases have been underestimated, possibly being three to five times higher than ... Read more

October 25, 2021October 25, 2021

Hypermobile EDS Clinically Similar to Hypermobility Disorders, Study Finds

Ehlers-Danlos News

Excluding pain, movement problems and spontaneous bleeding, people diagnosed with hypermobile Ehlers–Danlos syndrome (hEDS) and those with hypermobile spectrum disorder (HSD) have comparable disease severity and extra-articular (not affecting the ... Read more

October 18, 2021October 18, 2021

Global Genes, Diversity Coalition Team Up to Advance Health Equity

Ehlers-Danlos News

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, ... Read more

October 13, 2021October 13, 2021

Rare Disease Diversity Coalition Awards $600K to Combat Disparities

COVID-19 News, Ehlers-Danlos News

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC ... Read more