HJNO May/Jun 2023

38 MAY / JUN 2023  I  HEALTHCARE JOURNAL OF NEW ORLEANS   Healthcare Briefs Tulane University Researchers Discover Possible Genetic Cause for Double-Jointedness Tulane University researchers have discovered a possible genetic cause for hypermobility (com- monly called double-jointedness) and a range of associated connective tissue disorders such as hypermobile Ehlers-Danlos syndrome, accord- ing to preliminary findings published in the jour- nal Heliyon . You may know someone with overly flexible joints, a friend or family member who can eas- ily slide into a split or bend limbs to impossible angles. But hypermobility is a more serious con- dition than being “double-jointed.” For those with hypermobile Ehlers-Danlos syndrome (EDS), the same conditions that cre- ate 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, dizzi- ness, digestive trouble and migraines; and psy- chiatric disorders, such as anxiety and depres- sion. Women with hypermobile EDS may also be at increased risk for endometriosis or uter- ine fibroids. For years, researchers have struggled to find the cause of hypermobility and hypermobile EDS. Of the 13 subtypes of EDS, hypermobile EDS com- prises 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 Med- icine have linked hypermobility to a deficiency of folate – the natural form of vitamin B9 – caused by a variation of the MTHFR gene. Those with this genetic variant can’t metabo- lize folate, which causes unmetabolized folate to accumulate in the bloodstream. The folate defi- ciency 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 accu- rately diagnose hypermobility and hypermobile EDS by looking for elevated folate levels in blood tests and the MTHFR genetic variant. “Hypermobility is widespread and unfortunately under-recognized,” said Jacques Courseault, MD, 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." Doctors discovered the connection between folate deficiency and the MTHFR gene by work- ing 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 pro- cessed — is FDA-approved and widely available. 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 aller- gies, and improved gastrointestinal function. “We’ve discovered something in medicine that can help, not a small group of people, but poten- tially many across the world,” Courseault said. “This is real, it’s been vetted out well and clini- cally we’re noticing a difference.” Head of LDH, Courtney N. Phillips, PhD, Resigns Louisiana Department of Health Secretary Courtney N. Phillips, PhD, has resigned from the position. Phillips was appointed by Gov. John Bel Edwards, whose office released the following announcement about the resignation: “Gov. John Bel Edwards announced today that Louisiana Department of Health (LDH) Secretary Dr. Courtney N. Phillips has submitted her resig- nation, effective Thursday, April 6, 2023. “LDH Director of Legal, Audit and Regulatory Affairs Stephen Russo, who has served LDH for 27 years and as executive counsel since 2008, will serve as secretary upon Sec. Phillips’ resignation. “‘Secretary Phillips is one of the hardest work- ing, most capable, and most accomplished peo- ple I’ve ever met. During the COVID-19 pan- demic, her decisive and thoughtful leadership saved lives. She spearheaded our response as we established an unprecedented mass testing program and innovative vaccine rollout and dis- tribution program. Remarkably, she didn’t let the response to the COVID-19 emergency stop LDH from making progress on other important ini- tiatives, like our work to improve health equity, address maternal mortality, and expand access to critical health services. I have no doubt she will continue her dedication to service in this next chapter for her and her family,’ said Gov. Edwards. “Sec. Phillips, who had previously led two state health and human services agencies in Nebraska and Texas, was named LDH secretary in April 2020, at the height of the COVID-19 pandemic. She guided the agency through unprecedented challenge, overseeing LDH’s responses to the COVID-19 pandemic and Hurricanes Laura and Ida, but also led proactive efforts to strengthen the pipeline for a more diverse healthcare work- force; expand access to critical health services, including a suite of additional behavioral health services, the extension of dental benefits to adults with intellectual/developmental disabili- ties, the expansion of postpartum Medicaid cov- erage from six weeks to one year, and a focus on preventative screenings and services; and develop and implement a new, more sustain- able payment model for hospitals, dental pro- viders and ambulance providers. “Sec. Phillips led the successful development and implementation of LDH Business Plans in FY22 and FY23 that transparently lay out the Department’s commitments, priorities and mea- surable goals on a range of health issues, includ- ing maternal health, behavioral health and Courtney N. Phillips, PhD