A mutation in the gene THBS2 cause a newly defined form of Ehlers-Danlos syndrome (EDS) that’s characterized by unusual flexibility as well as prolonged bleeding and blood vessel abnormalities, a new study reports. The study, “Heterozygous THBS2 pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features…
News
Most people with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD) have signs of functional neurological disorder, where there’s a problem with the functioning of the nervous system rather than a structural issue, a study has found. Recognizing those signs could help guide appropriate care for hEDS/HSD patients…
Temporomandibular disorders, or conditions that affect the jaw joint and muscles, are highly prevalent among people with classical Ehlers-Danlos syndrome (cEDS), hypermobile EDS (hEDS) and hypermobility spectrum disorders in Sweden, a study reports. While conservative treatments resulted in positive outcomes, more than half the patients who were asked said there…
People with hypermobile Ehlers-Danlos syndrome (hEDS) produced less force when extending their hips during walking and had weaker muscles associated with hip extension compared to healthy people, according to a recent analysis. Researchers believe this muscle weakness may contribute to joint instability and related joint damage that tends to…
A woman diagnosed with the classical type of Ehlers-Danlos syndrome (EDS) showed features of vEDS, or vascular EDS — a subtype that affects blood vessels and is considered the most severe form of the disease — according to a case study. Researchers say this unusual case highlights the importance of…
Children with hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorder (HSD) who are in pain or anticipating pain show certain walking patterns, leading researchers to believe walking assessments may help to better understand clinical characteristics of the conditions and to develop coping strategies. Compared with typically developing children, those…
A condition called cerebral venous outflow disorder, where blood flow out of the brain is impaired, may have a unique clinical presentation when it occurs in people with connective tissue disorders such as Ehlers-Danlos syndrome (EDS), according to recent research. People with connective tissue diseases who were seen at…
A 33-year-old woman with hypermobile Ehlers-Danlos syndrome (hEDS) experienced less systemic (body-wide) pain and inflammation, as well as greater overall functioning after starting treatment with omalizumab, a medication for asthma and allergies, according to a recent report. Omalizumab is an injectable therapy that blocks the interaction of immunoglobulin…
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, “…
Components of the extracellular matrix (ECM), the network of molecules that gives tissues their structure, are dysregulated in skin cells from people with vascular Ehlers-Danlos syndrome (vEDS), making it a possible target for therapeutic intervention, a recent study suggests. The ECM took on properties…
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