Ehlers-Danlos Syndrome Type 3

WEDNESDAY, Jan. 10, 2024 -- Patients with post- COVID-19 vaccination postural orthostatic tachycardia syndrome (POTS) all have preexisting conditions, according to a study published in the January issue of Heart Rhythm . Debbie Lin Teodorescu, M.D., from the Cedars-Sinai Medical Center in Los Angeles, and colleagues prospectively collected data from 10 patients in a POTS clinic between July 2021 and June 2022 reporting new or exacerbated POTS symptoms after COVID-19 vaccination. Heart rate variability (HRV) and skin sympathetic nerve activity (SKNA) were compared between the patients and 24 healthy controls. Conditions that could increase the risk for POTS were seen in all patients, including previous COVID-19 infection, hypermobile Ehlers-Danlos syndrome, mast cell activation syndrome, and autoimmune, cardiac, neurological, or gastrointestinal conditions. The researchers found that compared with controls, a lower ambulatory root mean square of successive differences was seen in HRV for patients (46.19 ± 24 versus 72.49 ± 40.8 ms). Reduced mean amplitude was seen in SKNA for patients versus controls (0.97 ± 0.052 versus 1.2 ± 0.31 µV); burst amplitude was also reduced (1.67 ± 0.16 versus 4.3 ± 4.3 µV). All patients reported improvement with the usual POTS care after 417.2 ± 131.4 days of follow-up; relapses of POTS symptoms were reported in two with COVID-19 reinfection and one with small fiber neuropathy. "These findings suggest it may be helpful to keep an eye on patients with underlying health issues after COVID-19 vaccination to monitor for postvaccine POTS," coauthor Peng-Sheng Chen, M.D., also from the Cedars Sinai Medical Center, said in a statement. Abstract/Full Text (subscription or payment may be required) Disclaimer: Statistical data in medical articles provide general trends and do not pertain to individuals. Individual factors can vary greatly. Always seek personalized medical advice for individual healthcare decisions. Posted January 2024 Further Support and Information on COVID-19 COVID-19: Prevention & Investigational Treatments COVID-19 Support Group Coronavirus Disease Guide More news resources FDA Medwatch Drug Alerts Daily MedNews News for Health Professionals New Drug Approvals New Drug Applications Drug Shortages Clinical Trial Results Generic Drug Approvals Subscribe to our newsletter Whatever your topic of interest, subscribe to our newsletters to get the best of Drugs.com in your inbox.

New research identifies genetic cause for hypermobility and hypermobile Ehlers-Danlos syndrome, a novel discovery that may also, for the first time, allow medical professionals to diagnose and treat the connective tissue disorders. Tulane University researchers have discovered a possible genetic cause for hypermobility (commonly known as double-jointedness) and a range of associated connective tissue disorders such as hypermobile Ehlers-Danlos syndrome, according to preliminary findings published in the journal Heliyon. You may know someone with overly flexible joints, a friend or family member who can easily slide into a split or bend limbs to impossible angles. But hypermobility is a more serious condition than being "double-jointed." For those with hypermobile Ehlers-Danlos syndrome (EDS), the same conditions that create fragile connective tissue can cause a range of symptoms that, on the surface, can seem unrelated: physical conditions such as joint pain, chronic fatigue, thin tooth enamel, dizziness, digestive trouble and migraines; and psychiatric disorders, such as anxiety and depression. Women with hypermobile EDS may also be at increased risk for endometriosis or uterine fibroids. Researchers have long struggled to find the cause of hypermobility and hypermobile EDS. Of the 13 subtypes of EDS, hypermobile EDS comprises more than 90% of the cases. But until this study, hypermobile EDS was the only subtype without a known genetic correlate. As a result, symptoms have often been treated individually rather than as the result of a single cause. Researchers at Tulane University School of Medicine have linked hypermobility to a deficiency of folate -- the natural form of vitamin B9 -- caused by a variation of the MTHFR gene. "You've got millions of people that likely have this, and until now, there's been no known cause we've known to treat," said Dr. Gregory Bix, director of the Tulane University Clinical Neuroscience Research Center. "It's a big deal." Those with this genetic variant can't metabolize folate, which causes unmetabolized folate to accumulate in the bloodstream. The folate deficiency may prevent key proteins from binding collagen to the extracellular matrix. This results in more elastic connective tissue, hypermobility, and a potential cascade of associated conditions. The discovery could help doctors more accurately diagnose hypermobility and hypermobile EDS by looking for elevated folate levels in blood tests as well as the MTHFR genetic variant. "Hypermobility is widespread and unfortunately under-recognized," said Dr. Jacques Courseault, medical director of the Tulane Fascia Institute and Treatment Center. "I'm excited about being able to treat the masses where people aren't going their whole lives being frustrated and not getting the treatment they need." Previously, hypermobility could only be diagnosed by the Beighton score, a somewhat controversial physical exam that involves measuring the bend of the spine, fingers and limbs. Combined with a historic lack of acceptance of hypermobility as a distinct body type that requires specialized treatment, the number of people with hypermobility is unclear, though it could comprise more than half the world's population. "Hypermobility is not rare," Courseault said. "Hypermobility is like a Ferrari that requires a lot of maintenance and the best synthetic oil. After knowing a patient's name and date of birth, I think it's prudent for clinicians to know which of these body types they have." Doctors discovered the connection between folate deficiency and the MTHFR gene by working with patients at Tulane's Hypermobility and Ehlers-Danlos Clinic, the only such clinic in the U.S. that focuses on fascia disorders. Blood tests of hypermobile patients who showed signs of associated medical conditions revealed elevated levels of unmetabolized folate. Subsequent tests showed that most of those with elevated folate serum levels had the genetic polymorphism. The good news is a treatment already exists. Methylated folate -- folate that is already processed -- is FDA-approved and widely available. "It's an innocuous treatment," Bix said. "It's not dangerous, and it's a vitamin that can improve people's lives. That's the biggest thing: We know what's going on here, and we can treat it." Though Courseault said more lab research and clinical testing needs to be done, patients who have been treated with folate have shown improvement: less pain, less brain fog, fewer allergies and improved gastrointestinal function. "We've discovered something in medicine that can help, not a small group of people, but potentially many across the world," Courseault said. "This is real, it's been vetted out well and clinically we're noticing a difference."