A collapsed lung and a new TNXB gene mutation were identified for the first time in a patient diagnosed with classical-like Ehlers-Danlos syndrome (clEDS), according to a recent case report. The report, “Recurrent pneumothorax in case of tenascin-X deficient Ehlers-Danlos syndrome:…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
A genetic testing technique called whole-exome sequencing (WES) revealed potentially disease-causing mutations in three people with Ehlers-Danlos syndrome (EDS) — and provided evidence for the patients’ disease type — in a recent study. An accurate diagnosis of a patient’s EDS type is important for appropriate…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
Extensive rehabilitation therapy given by a multidisciplinary team allowed a teenager with digestive problems due to hypermobile Ehlers-Danlos syndrome (hEDS)Â to forgo surgical feeding tube placement and still gain weight, a case study reports. “We believe that the combination of patient motivation, multidisciplinary intervention, and medication optimization led to successful…
A study recommends genetic testing if a pregnant woman is suspected of having Ehlers-Danlos syndrome (EDS), especially vascular EDS because this disease type carries an increased risk of uterine rupture during childbirth. The case study, “Twin Pregnancy with Untyped Ehlers-Danlos Syndrome Requiring Prompt Genetic Testing: A Case…
A rare genetic mutation that arose in a man well before his birth was the cause of Ehlers-Danlos syndrome (EDS) in his daughter, a case study reported. This finding marks only the second reported case of EDS being transmitted through what’s known as gonosomal mosaicism. Study researchers suggested that “further observations will…
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 that of each mutation alone. “This is the first report of such a combination ever described to cause vEDS…
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 to a U.S. study. These findings suggest that hEDS and its associated tissue fragility may increase the susceptibility…
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) syndrome. This form of the condition is characterized by several malformations and progressive fragility-related symptoms, the study…
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