Symptoms & Diagnosis

EDS presents differently in almost every person who has it, which is one reason it takes so long to diagnose. The average time from first symptom to confirmed diagnosis for hypermobile EDS is between ten and twelve years. That is a decade or more of pain, dismissal, misdiagnosis, and frequently being told that symptoms are psychological. Understanding why this happens — and what the diagnostic criteria actually look like — is important for anyone who cares about someone with EDS, or who suspects they might have it themselves.

The cardinal features of hypermobile EDS are joint hypermobility, musculoskeletal pain, and skin changes. Joint hypermobility means joints that move beyond their normal range — fingers that hyperextend past 90 degrees, knees that hyperextend backwards, a thumb that reaches the forearm. The Beighton score is a nine-point scale used to quantify hypermobility, and a score of five or more is one component of the hEDS diagnostic criteria. However, hypermobility decreases with age, which means people who were highly hypermobile in childhood may score below the threshold by their forties, even while still having significant joint instability and pain.

The skin in hEDS is often soft and velvety to the touch, may be mildly stretchy, and heals slowly or poorly. Stretch marks appearing in unusual places or at young ages — on the thighs of a twelve-year-old, or on the shoulders of someone who has never been overweight — can be an early sign. Wounds may widen into so-called "cigarette paper" scars. In classical EDS, these features are more pronounced, and skin fragility is more severe.

Chronic pain is almost universal in EDS. It is often widespread, poorly localised, and worsened by activity in ways that do not follow the patterns clinicians expect from more common pain conditions. Fatigue is equally common and equally disabling — not tiredness that resolves with rest, but bone-deep exhaustion that compounds over time. Both pain and fatigue are frequently dismissed as functional or psychosomatic, particularly in women, who make up the majority of EDS diagnoses and who face well-documented gender bias in pain assessment.

EDS very commonly co-occurs with other conditions: Postural Orthostatic Tachycardia Syndrome (POTS), a form of dysautonomia where standing causes an abnormal heart rate increase and symptoms including dizziness, pre-syncope, and cognitive impairment; Mast Cell Activation Syndrome (MCAS), where mast cells trigger inappropriate allergic-type reactions; and gastrointestinal dysmotility, including gastroparesis. These comorbidities are not coincidental — the same connective tissue dysfunction that affects joints also affects blood vessel walls, nerves, and the gut. A patient presenting with multiple unexplained conditions simultaneously should raise EDS as a possibility.

The diagnostic criteria for hEDS, revised by the International EDS Consortium in 2017, require the presence of all three of the following: generalised joint hypermobility (defined by Beighton score or equivalent), at least two of three systemic features (tissue fragility features, family history, musculoskeletal complications), and the exclusion of other relevant diagnoses. There is no blood test for hEDS. Diagnosis is clinical, and it requires a clinician who knows what to look for — which is itself part of the problem.