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Symptoms of Hypermobile Ehlers-Danlos Syndrome

This is a compilation of the many symptoms of hypermobile Ehlers-Danlos Syndrome (hEDS) as a reminder to patients that this condition affects much more than just joints.

  • General: Fatigue, sleep disorders, Mast Cell Activation Syndrome
  • Musculo-Skeletal: Pain, easy trauma/dislocation in joints, arthritis, possible osteoporosis, headaches (migraine and muscle tension), movement disorders, low muscle tone (hypotonia), high muscle tone (hypertonia), muscle pain/cramps/spasm; restless legs, joint pain/instability/dislocation/arthritis, inflammation of rib cage cartilage (costochondritis), diagnosis of fibromyalgia, winged shoulder blades (scapulae), nerve compression (carpal tunnel), thoracic outlet syndrome, developmental dysplasia of hip, “W” sitting, patellofemoral joint syndrome, flexible flat feet, clubfoot, osteoporosis, impaired proprioception leading to clumsiness or incoordination
  • Spine: back pain, postural kyphosis, scoliosis, Chiari malformation, atlanto-axial instability, cranio-cervical instability, laxity at any spinal level leading to degenerative disc disease, tethered cord syndrome
  • Dental: TMJ, oral bleeding/ mucosal fragility, teeth grinding (bruxism) tooth abnormalities (higher cusps and deeper fissures of the premolars and molars with shortened roots, enamel hypoplasia), increased tooth fracture, decay, periodontal disease, difficulty chewing/swallowing, speech impairment, delayed clear articulation, difficulty maintaining voice
  • Skin: soft/velvety skin, thin/translucent skin, impaired/slow wound healing, atrophic scarring, easy bruising, stretch marks (striae), varicose veins, signs of aging, Painless constriction of small blood vessels in hands/feet (acrocyanosis), Raynaud’s syndrome, may have insufficient response to local anesthetics due to faster metabolism
  • Cardiovascular: dilation of aortic root, dizziness, POTS, orthostatic intolerance, mitral valve prolapse, palpitations, rapid heartrate (tachycardia)           
  • Respiratory: asthma, difficulty breathing (dyspnea), coughing, reduced exercise tolerance
  • Gastrointestinal: reflux, heartburn, bloating, nausea, vomiting, early fullness (satiety), delayed stomach emptying (gastroparesis), recurrent abdominal pain and/or distention, irritable bowel syndrome, constipation, and diarrhea, difficulty swallowing (dysphagia), intestinal intussusceptions, diverticulitis, hernia, stool incontinence
  • Pelvic floor: organ prolapse, sensory and emptying abnormalities of any pelvic organ (pelvic floor issues often occur or worsen after childbirth)
  • Gynecologic: mucosal issues, heavy periods (menorrhagia), painful periods (dysmenorrhea), painful intercourse (dyspareunia), endometriosis, uterine fibroids (myomas), infertility
  • Obstetric: pelvic girdle pain/instability, spine and joint pain, GERD, varicose veins, worsened POTS, miscarriage, premature rupture of membranes, pelvic floor prolapse cervical incompetence, short labor, wound healing and scarring issues from C-section delivery , overall increased joint laxity
    • Symptoms may begin or worsen at puberty; may be better or worse on OCP/HRT, before or during periods, during or after pregnancy, during perimenopause, or after menopause. 
  • Urinary: daytime and nocturnal incontinence, stress incontinence, urinary tract infections                           
  • Organ prolapse or ptosis due to reduced support of:
    • diaphragm (hiatal hernia)
    • pelvic floor (uterine, urinary or rectal prolapse, rectocele, cystocele, enterocele)
    • fascia (umbilical, inguinal or femoral hernias, hernias at surgical sites)
  • Nervous System: CSF Leaks (spontaneous or induced), dysautonomia, idiopathic intracranial hypertension, balance issues
  • Dysautonomia: orthostatic intolerance, palpitations, tachycardia, and atypical chest pain, as well as a series of neurological secondary manifestations, including fatigue, dizziness, fainting, syncope, memory, and concentration troubles, reduced sweat volume, gut dysmotility, under/overactive bladder
  • Sensory: ear pain, tinnitus, hearing loss (bones in ear can be hypermobile); Nearsightedness,  crossed eyes (strabismus), blurred vision, blue tint to sclerae, bulging cornea (keratoconus), lens subluxation, retinal detachment
  • Psychiatric: depression, anxiety, affective disorder, low self-confidence, negative thinking, hopelessness, and desperation (all of which can make pain worse)

References

  • https://www.ehlers-danlos.com/pdf/2017-FINAL-AJMG-PDFs/Tinkle_et_al-2017-American_Journal_of_Medical_Genetics_Part_C-_Seminars_in_Medical_Genetics.pdf
  • https://www.ehlers-danlos.com/2017-eds-classification-non-experts/neurological-spinal-manifestations-ehlers-danlos-syndromes/
  • https://www.ehlers-danlos.com/pdf/2018-annual-conference/N-Blagowidow-2018Baltimore-OB-GYN-and-EDS-HSD-S.pdf
  • https://www.ehlers-danlos.org/information/the-skin-in-hypermobile-ehlers-danlos-syndrome
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020453/
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