For physical therapists, recognizing the difference between general joint flexibility and a pathological connective tissue disorder is paramount to providing appropriate care and facilitating necessary referrals. Since the 2017 International Classification, the umbrella term for symptomatic hypermobility has been refined into three main categories: Asymptomatic Generalized Joint Hypermobility (GJH), Hypermobility Spectrum Disorder (HSD), and hypermobile Ehlers-Danlos Syndrome (hEDS).
The physical therapist, often the first healthcare provider to spend significant time assessing a patient’s movement patterns, plays a crucial role in distinguishing these categories.
1. Asymptomatic Generalized Joint Hypermobility (GJH)
This is the non-pathological end of the spectrum. It refers to individuals who meet the age and sex-specific cutoffs on the Beighton Score (typically $\ge 5/9$ for adults), but do not experience chronic pain or functional limitations related to their hypermobility.
- Clinical Picture: The person may be an athlete (e.g., dancer, gymnast) whose flexibility is an asset. They have good muscular control relative to their laxity and no significant comorbidities (e.g., fatigue, dysautonomia).
- PT Implication: Management focuses on strength, endurance, and injury prevention, ensuring they never push into their extreme ranges during activity. No specialist referral is typically needed.
2. Hypermobility Spectrum Disorder (HSD)
HSD is the new diagnostic term for symptomatic hypermobility that does not meet the strict criteria for hEDS. A patient with HSD has GJH, but also experiences one or more musculoskeletal symptoms such as chronic pain, recurrent joint instability, or soft tissue injuries.
HSD is further sub-classified based on the location of the hypermobility:
- Generalized HSD (G-HSD): A positive Beighton score plus chronic pain/instability.
- Localized HSD (L-HSD): Hypermobility limited to one joint or area (e.g., recurrent shoulder instability) that causes symptoms.
- Historical HSD (H-HSD): The patient was hypermobile in the past, but age or injury has lowered their Beighton score below the threshold, yet they still suffer from musculoskeletal symptoms.
- PT Implication: This is the PT’s primary area of intervention. Treatment focuses heavily on motor control, proprioceptive training, and functional stabilization. Systemic comorbidities should be screened for and managed within the PT scope (e.g., pacing for fatigue).
3. Hypermobile Ehlers-Danlos Syndrome (hEDS)
hEDS is the rarest and most complex form of symptomatic hypermobility. It is a diagnosis of exclusion and requires fulfilling all three diagnostic criteria established in the 2017 International Classification. The PT is essential for gathering data on Criteria 1 and 2, allowing for accurate referral to a geneticist or rheumatologist.
Criterion 1: Generalized Joint Hypermobility (GJH)
The patient must meet the current Beighton Score cut-off.
Criterion 2: Systemic Manifestations
The patient must demonstrate two or more specific systemic features related to generalized connective tissue involvement. This is where the PT’s keen eye is essential, as these findings relate to the non-musculoskeletal body systems:
- Skin Manifestations: Soft, velvety skin texture, moderate skin hyperextensibility, and papyraceous (thin, “cigarette paper”) scarring or unexplained striae.
- Marfanoid/Craniocervical Features: High palate, crowded teeth, or specific craniocervical instability/atlantoaxial subluxation features.
- Systemic Issues: Recurrent joint subluxations/dislocations, chronic musculoskeletal pain for $>3$ months, and two specific co-occurring conditions (e.g., functional gastrointestinal disorders, autonomic dysfunction/POTS, or anxiety disorder).
Criterion 3: Exclusion
The diagnosis of hEDS can only be made if the patient does not have:
- An alternative EDS subtype (which are confirmed by genetic testing).
- Another connective tissue disorder (e.g., Marfan or Loeys-Dietz syndrome).
- Symptoms better explained by another underlying condition (e.g., an autoimmune disease).
Clinical Takeaway for Joint hypermobility physiotherapist Gold Coast
The PT must shift the assessment from “How flexible are they?” to “How are they impacted by their hypermobility, systemically and functionally?”
- Positive Beighton + Local Pain: Likely Localized HSD (L-HSD).
- Positive Beighton + Widespread Pain, Fatigue, Anxiety, and No Systemic Skin Findings: Likely Generalized HSD (G-HSD).
- Positive Beighton + Widespread Pain, Fatigue, and Clear Systemic Features (Soft skin, history of dislocations, POTS): Strong suspicion of hEDS, warranting referral for multidisciplinary confirmation.
