Authors: Kanak Gupta, MSc pupil, College of Toronto | Editors: Romina Garcia de leon, Janielle Richards (Weblog Coordinators) | Professional Reviewer: Jesse Lacasse
Printed: June twenty seventh, 2025
Typically being too good at yoga is a foul factor
Rising up, I typically amused my pals with my double-jointed social gathering methods—bending my fingers backwards to the touch my wrists, popping my shoulders in and misplaced, exceeding the conventional vary of motion. Nevertheless, the older I received, the extra I spotted that my hypermobility got here at the price of recurrent joint points, subluxations, and dislocations from on a regular basis actions. Bodily exercise would end in continual ache in my knees, again, and ft that nobody my age was complaining about. There have been additionally fixed inexplicable bruises on my physique, scars that by no means totally healed, and clumsiness that appeared nearly scientific. Then got here points corresponding to unusual migraines, neuropathies, and reproductive well being points that got here and went with no clear sample and which medical doctors couldn’t appear to search out the basis causes of.
Then a coworker, who had been identified with Ehlers-Danlos Syndrome, prompt that perhaps I’ve it as nicely.The hypermobility, the joint points, and all of the idiopathic issues that saved cropping up match completely into the diagnostic standards of this household of uncommon connective tissue issues that I had by no means even heard of earlier than: Ehlers-Danlos Syndromes (EDS) or Hypermobility Spectrum Problems (HSD). Due to the rarity of those situations (starting from 1 in 5000 for the extra frequent sorts, to 1 in one million for the ultra-rare sorts), many medical doctors typically don’t even consider EDS/HSD as potential diagnoses. This results in gross underdiagnosis and mistreatment, and infrequently most sufferers who do get identified with EDS/HSD are those that realized in regards to the issues independently and actively pursued an official analysis.
What’s EDS?
Whereas generally referred to Ehlers-Danlos Syndrome, EDS is definitely a household of 13 kinds of heritable connective tissue syndromes. Connective tissue performs a mess of roles within the physique—connecting muscular tissues and bones, offering power and assist to joints, including construction and defending organs. Thus, EDS, which is primarily hyperelasticity or weakening of connective tissue can have an effect on numerous bodily methods. Nevertheless, joint hypermobility (i.e. joints that transfer past their normal vary of movement), pores and skin hyperflexibility, and tissue fragility are frequent to all kinds of EDS. Some individuals who won’t meet all the factors of an EDS kind could also be identified with a Hypermobility Spectrum Dysfunction (HSD). The commonest markers of EDS in sufferers are hyperflexibility, continual joint pains, frequent joint dislocations or subluxations, and even pores and skin that bruises simply.
Further signs are depending on EDS kind. An individual with Hypermobile EDS (hEDS)—the most typical kind, making up about 90% of EDS circumstances—might need different signs corresponding to irregular scarring, continual fatigue, gastrointestinal points. In rarer kinds of EDS, one may expertise signs corresponding to weak arterial and organ partitions resulting in elevated danger of rupture (Vascular EDS), gum illness and tooth loss (Periodontal EDS), or corneal points (Brittle Cornea Syndrome). Individuals with EDS additionally current with a number of kinds of congenital malformations depending on EDS kind and have increased than regular charges of comorbidities with issues corresponding to Postural Orthostatic Tachycardia Syndrome (POTS—an autonomic nervous system dysfunction that may result in spells of dizziness or fainting with sudden standing up or sitting down motion), autoimmune situations corresponding to Mast Cell Activation Syndrome (MCAS), and even neuropsychiatric issues.
Even inside the similar kind of EDS, the precise constellation of signs and their severity is exclusive to every affected person. The syndromes are very heterogeneous and their severity can vary from gentle sufficient that some sufferers go their total lives with out realizing they’ve EDS to extreme circumstances that may result in lifelong disabilities. Given the affect these issues have on high quality of life, an early analysis is extraordinarily necessary.
EDS is a ladies’s well being concern
That is very true for girls with EDS as they’re vulnerable to an fully extra set of reproductive well being points. Hormonal occasions corresponding to puberty, being pregnant, and menopause can all have an effect on EDS signs. A analysis research following 386 ladies with hypermobile EDS discovered that puberty worsened EDS signs in 52% of girls and led to the event of latest signs in 17% of the ladies. Fluctuations in circulating intercourse hormones corresponding to estradiol and progesterone have been linked to larger joint laxity, with some research suggesting that joint laxity could also be affected by the menstrual cycle. Moreover, ladies with EDS typically undergo from menstrual points corresponding to extreme menstrual bleeding, painful durations, and irregular biking. Some ladies might expertise continual pelvic ache, ache with intercourse, and have continual ache/discomfort of the vulva. Importantly, EDS will increase the chance of pelvic prolapse, affecting any pelvic organ.
Being pregnant in individuals with EDS may also be an exceptionally difficult time. Elevated physique weight and pressure on the backbone and pelvis can result in extra again and joint ache than normal. Undesirable signs of being pregnant corresponding to morning illness, complications, intensified swelling of limbs. Given the weak spot of organ partitions—together with blood vessels—there’s additionally an elevated danger of growing varicose veins or different cardiovascular points. This weak spot extends to uterine partitions and connective tissue within the pelvis, which makes miscarriages extra frequent in EDS sufferers. Hyperextensibility of the cervix can result in problems corresponding to untimely breaking of waters or a quick labour throughout supply. These points can persist post-delivery, as individuals with EDS might have extra bleeding than normal and slower therapeutic of stitches resulting from pores and skin and tissue fragility. Total, there’s an elevated danger of untimely beginning and maternal mortality, so this can be very necessary that pregnant people inform their medical care group of their EDS analysis to higher put together for being pregnant and labour with further safeguards and care.
Dwelling with EDS
Whereas an EDS analysis might seem to be a frightening life sentence, consciousness might help stop or mitigate a few of the worst harms of the issues and finally result in a greater high quality of life. Having extra details about their signs and forewarning about future dangers might help sufferers take preventative measures corresponding to in search of out bodily remedy to strengthen joints, avoiding workout routines or sports activities that may improve danger of harm, and making knowledgeable selections on the subject of main life occasions corresponding to pregnancies or surgical procedures. (For me, this comes within the type of working towards low affect workout routines that strengthen muscular tissues, like swimming and pilates.) The invisible incapacity of EDS could be an isolating situation and affected by seemingly inexplicable and untreatable bodily points occurring at increased charges than one’s friends can depart individuals with EDS feeling dismissed or labeled as hypochondriacs. Thus, whereas scary, an EDS analysis can typically be a aid as it could assist to attach the dots and supply solutions to the numerous questions undiagnosed sufferers stay with.
For those who discover the next data related to you or somebody you understand, the Ehlers-Danlos Society’s web site (www.ehlers-danlos.com) is a good place to begin for complete details about the syndromes and the way to discover applicable medical look after it.