Most people with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD) carry genetic variations that affect the amount of folate available in their blood, according to a study. These findings support earlier work suggesting changes in how the body processes folate, also known as vitamin B9, may cause the connective tissue that normally binds structures together to become loose and scarred, leading to symptoms. The study, “Prevalence of MTHFR Polymorphisms in Patients With Hypermobile Ehlers-Danlos Syndrome and Hypermobile Spectrum Disorders in a US Hypermobility C ..read more

A man with vascular Ehlers-Danlos syndrome (vEDS) had a ruptured splenic artery, a blood vessel that supplies the spleen, days after surgery for a perforated bowel, leading researchers in Japan to call for careful monitoring after surgery. “Surgeons should cooperate with physicians and interventional radiologists to perform surgery in an environment that allows the prompt diagnosis and treatment of postoperative [after surgery] complications,” the researchers wrote about the case, “Successful management of splenic artery dissection after sigmoid colon perforation in vascular Ehlers–Danlos syn ..read more

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 who show symptoms of the disorder, such as pain that moves around the body or a lingering sense of touch, on top of their symptoms of hEDS or HSD. The study, “Functional neurological signs in hypermobile Ehlers–Danlos syndrome and hypermobile spectrum d ..read more

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 was a lack of knowledge about EDS among dentists. “Education about EDS and its manifestation among dental staff is compulsory in Sweden,” the researchers wrote in “Treatments related to temporomandibular disorders among pati ..read more

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 accrue in people with hEDS. Nearly three-quarters of hEDS patients reported that they experience hip subluxations — joint misalignments, or partial dislocations — at least once per week. “Our findings may help clinicians establish an understanding of pote ..read more

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 genetic testing for getting a correct diagnosis from among this group of genetic disorders that affect the body’s connective tissues. The patient, in her mid-40s, had an aneurysm, or bulge, and tearing in her major arteries — symptoms normally found in vEDS — but genetic testing ultimately led ..read more

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 with hEDS or HSD spend more time with their feet on the ground while walking, and their gaits varied more. Pain, particularly lower extremity pain, is a common complaint in hEDS. People with hEDS, the most common type of Ehl ..read more

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 clinic in the U.S. for suspected CVD exhibited different patient demographics, more severe symptoms, and worse life quality compared with the normal profile of CVD patients. Allergies to medications and surgical supplies were also prevalent. “It is imperative that physicians ..read more

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, “Innovative use of telitacicept in Ehlers–Danlos syndrome,” was published as a letter to the editor in the journal Medicina Clínica. Ehlers-Danlos syndrome is a group of genetic conditions that affect connective tissues ..read more

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 reminiscent of a state of fibrosis, or excessive scar tissue buildup, which characterizes various connective diseases, genetic and protein analyses indicated. “Therapeutics that target the dysregulated ECM proteins or help replace damaged tissue may improve clinical outcomes,” the researchers ..read more