Summary of Vitamin Deficiency’s Surprising Role in Double-Jointedness and EDS:
Researchers at Tulane University have found a possible genetic cause for hypermobility and related disorders such as Ehlers-Danlos syndrome (EDS). They linked hypermobility to a deficiency of folate caused by a variation of the MTHFR gene. This deficiency may prevent proteins from binding collagen to the extracellular matrix, producing more elastic connective tissue and related conditions. The discovery could help doctors diagnose hypermobility and hypermobile EDS more accurately using blood tests for elevated folate levels and the MTHFR genetic variant. Methylated folate, an FDA-approved treatment, has shown promise in improving patients’ symptoms.
*****
Possible Genetic Cause for Hypermobility and Connective Tissue Disorders Discovered
Tulane University researchers have made a breakthrough in understanding the causes of hypermobility and hypermobile Ehlers-Danlos Syndrome (EDS) through a study published in Heliyon. The study links hypermobility to a deficiency of folate, a natural form of vitamin B9, caused by a variation of the MTHFR gene. The lack may prevent proteins from binding collagen to the extracellular matrix, resulting in elastic connective tissue, hypermobility, and associated conditions. The discovery could lead to more accurate diagnoses through blood tests, while an existing FDA-approved treatment with methylated folate has shown promise in improving patients’ symptoms.
The Symptoms and Diagnosis of Hypermobility and EDS
Hypermobility, often referred to as being “double-jointed,” is a condition characterized by overly flexible joints, and the majority of EDS cases come in the form of hypermobile EDS. The condition causes connective tissue to be fragile or stretchy, leading to physical symptoms such as joint pain, fatigue, migraines, and possible psychiatric disorders like anxiety and depression. Women with hypermobile EDS may also have a higher risk of endometriosis and uterine fibroids. The previous difficulty in diagnosing hypermobility and hypermobile EDS resulted in the conditions being treated symptomatically rather than through a single cause. Until now, hypermobile EDS was the only subtype of EDS without a known genetic correlate.
The Link Between Folate Deficiency and the MTHFR Gene to Hypermobility
Research by Tulane University School of Medicine established that hypermobility is linked to a folate deficiency caused by a genetic variation in the MTHFR gene. The study indicates that those with the genetic variant cannot metabolize folate, accumulating unprocessed folate in the bloodstream. Elevated folate levels in blood tests and the MTHFR gene test can help to diagnose hypermobility and hypermobile EDS more accurately. The discovery could benefit more than half the world’s population who have the condition. However, it should be noted that more research and clinical testing are necessary before the MTHFR genetic variant can be used clinically.
FDA-Approved Treatment for Hypermobility and Hypermobile EDS
The study’s most significant outcome is the discovery that an FDA-approved treatment already exists for hypermobility associated with folate deficiency caused by the MTHFR gene. Treatment with methylated folate – which has already been processed – is safe and can improve symptoms. Patients treated with folate responded positively, demonstrating less joint pain and brain fog, fewer allergies, and improved gastrointestinal function.
Conclusion
Tulane University researchers’ discovery of the genetic cause of hypermobility and hypermobile EDS brings new hope to those living with the condition. The ability to test for the MTHFR variant could lead to more accurate diagnoses that enable patients to receive the specialized treatment they need. While the existing methylated folate treatment may not cure the conditions, it offers potential symptom relief and improved quality of life. Tulane University researcher Jacques Courseault stated, “We’ve discovered something in medicine that can help not a small group of people but potentially many across the world. This is real; it’s been vetted out well, and we’re noticing a difference clinically.”
Comments are closed