Evaluation and Diagnosis of Hypermobile Ehlers‑Danlos Syndrome

Diagnostic Criteria (2017 International Consensus)

• The diagnosis of hypermobile EDS requires fulfillment of three major criteria: (1) generalized joint hypermobility assessed by the Beighton score, (2) presence of at least two connective‑tissue disorder manifestations, and (3) exclusion of alternative diagnoses through targeted genetic testing. 1

Beighton Scoring System

• The Beighton score is the standardized first criterion for hEDS and evaluates five maneuvers (pinky extension, thumb‑to‑forearm, elbow hyperextension, knee hyperextension, and forward spinal flexion), each awarding one point per side where applicable. 1
• Positive Beighton thresholds are age‑specific: ≥6/9 points in pre‑pubertal children, ≥5/9 points from puberty to age 50, and ≥4/9 points in individuals ≥50 years. 1

Connective‑Tissue Manifestations Required for Criterion 2

• At least two of the following must be present:

Gastrointestinal Involvement in hEDS

• More than 60 % of individuals with hEDS report gastrointestinal symptoms, and 98 % of those meet criteria for disorders of gut‑brain interaction. 2, 3

Associated Autonomic and Mast‑Cell Disorders

Postural Orthostatic Tachycardia Syndrome (POTS)

• Diagnostic threshold: an increase in heart rate of ≥30 bpm in adults (≥40 bpm in adolescents aged 12‑19) within 10 minutes of standing, without orthostatic hypotension. 1
• Symptoms must be present for ≥6 months (palpitations, light‑headedness, fatigue, blurred vision, cognitive dysfunction). 1
• POTS is reported in 37.5 % of hEDS patients; those with POTS have higher rates of gastrointestinal dysmotility. 2

Mast Cell Activation Syndrome (MCAS)

• Testing for MCAS should be limited to patients who exhibit multisystem symptoms triggered by foods, heat, emotions, or mechanical stimuli. 2
• Current evidence does not support universal screening for POTS or MCAS in all hEDS patients. 1, 2

Role of Genetic Testing in the Diagnostic Work‑up

• Excluding alternative diagnoses through targeted genetic testing is a mandatory component of the 2017 consensus criteria for hEDS. 1

Diagnostic and Management Recommendations for Generalized Joint Hypermobility (Cited Evidence)

Beighton Scoring System

• The Beighton score evaluates five maneuvers—pinky finger passive dorsiflexion > 90°, thumb‑to‑forearm apposition, elbow hyperextension > 10°, knee hyperextension > 10°, and forward spinal flexion with palms flat on the floor—assigning one point per side where applicable (maximum 9 points)【4】.
• Age‑adjusted thresholds for a positive screen are ≥ 6/9 points in pre‑pubertal children, ≥ 5/9 points from puberty to age 50, and ≥ 4/9 points in adults ≥ 50 years【4】 (derived from the same consensus source).

Postural Orthostatic Tachycardia Syndrome (POTS) in Hypermobile Patients

• POTS is diagnosed when the heart rate rises ≥30 bpm in adults (≥40 bpm in adolescents aged 12‑19) within 10 minutes of standing, without orthostatic hypotension【4】.
• Symptoms must be present for ≥6 months and be attributable to orthostatic stress, after exclusion of dehydration, offending medications, primary anxiety disorders, or other medical causes【4】.
• In patients with hypermobile Ehlers‑Danlos syndrome, POTS prevalence is approximately 37.5%, and its presence markedly increases the risk of gastrointestinal dysmotility【4】.

Gastrointestinal Involvement in hEDS

• More than 60 % of individuals with hypermobile Ehlers‑Danlos syndrome report gastrointestinal symptoms, and 98 % meet criteria for disorders of gut‑brain interaction (e.g., functional dyspepsia, irritable bowel syndrome)【4】.
• Gastroenterology clinicians are advised to incorporate Beighton scoring when evaluating patients with these functional gastrointestinal disorders【4】.

Physical Therapy Evidence Base

• Therapeutic exercise and motor‑function training are identified as the interventions with the strongest evidence for improving joint stability, proprioception, and functional outcomes in generalized hypermobility spectrum disorder and hEDS【4】 (strength of evidence: strong).
• Patient education/instruction is also supported by evidence, though the magnitude of benefit is less clearly quantified【4】 (strength of evidence: moderate).
• Manual therapy and functional training have weaker supporting evidence and should be considered adjuncts rather than primary modalities【4】 (strength of evidence: weak).