Can an orthopedic surgeon diagnose hypermobile Ehlers-Danlos syndrome (hEDS)?

Can an Orthopedic Surgeon Diagnose hEDS?

Yes, an orthopedic surgeon can diagnose hEDS if they are familiar with the 2017 international consensus diagnostic criteria, which are primarily clinical and do not require genetic testing or subspecialty training to apply. However, given the complexity of the diagnosis and the high rate of misdiagnosis, referral to a multidisciplinary team or specialist with expertise in connective tissue disorders is often advisable for confirmation and comprehensive management planning.

The Diagnostic Framework

The 2017 international consensus criteria for hEDS diagnosis require fulfillment of three major criteria 1:

• Criterion 1: Generalized joint hypermobility assessed using the Beighton scoring system (≥6/9 points in prepubertal children, ≥5/9 from puberty to age 50, ≥4/9 for those ≥50 years) 1
• Criterion 2: Two or more features of a connective tissue disorder (soft/velvety skin, systemic manifestations, family history) 1
• Criterion 3: Exclusion of alternative diagnoses through appropriate clinical evaluation and, when indicated, genetic testing 2

Why Orthopedic Surgeons Are Well-Positioned

Orthopedic surgeons routinely evaluate joint hypermobility, instability, and musculoskeletal pain—the cardinal features of hEDS 3. They can:

• Perform the Beighton score assessment during standard musculoskeletal examination 1
• Identify characteristic orthopedic manifestations including recurrent joint dislocations, chronic pain, and instability patterns 3
• Recognize systemic features such as soft skin texture and widespread joint involvement during physical examination 1

Critical Diagnostic Pitfalls

Beighton Score Accuracy

Studies demonstrate that Beighton scores assessed by primary care practitioners were higher than those by EDS specialists in 81% of cases, and generalized joint hypermobility was confirmed in only 46% of patients with a previous hEDS diagnosis 4. This highlights the importance of proper training in assessment technique.

The Exclusion Criterion Is Essential

Genetic testing identified an alternative or additional diagnosis in 26.4% of patients who initially met clinical criteria for hEDS, with findings requiring distinct management strategies 2. This underscores that criterion 3—exclusion of alternative diagnoses—is not optional.

Stringency of 2017 Criteria

Only 15% of patients with a prior hEDS diagnosis based on older Villefranche criteria met the 2017 diagnostic criteria 4. The current criteria are intentionally more restrictive to improve diagnostic specificity.

When to Refer Beyond Orthopedics

An orthopedic surgeon should consider referral to specialists when 5:

• Gastrointestinal symptoms are prominent (>60% of hEDS patients have chronic GI manifestations) 5, 6
• Orthostatic intolerance is present (palpitations, dizziness, presyncope, symptoms improving when supine) 7, 5
• Episodic systemic symptoms suggest mast cell activation syndrome 5
• Genetic testing is needed to exclude alternative heritable connective tissue disorders 2
• Psychological burden is significant (60.8% of hEDS patients report daily mental health burden) 3

Surgical Considerations for Confirmed hEDS

If an orthopedic surgeon diagnoses hEDS, they must recognize that surgical outcomes are significantly worse than in the general population 3, 8:

• Complication rates of 35.7% for joint surgeries and 42.9% for spine surgeries were reported 3
• 91% of cases experienced post-operative complications, including persistent pain (most common), continued subluxation/dislocation, instability, hardware pain, and infection 8
• Physical therapy tailored to EDS was more helpful than standard physical therapy (78.6% vs 43.1% reported improved posture), suggesting conservative management should be exhausted first 3

Practical Algorithm for Orthopedic Surgeons

1. Assess Beighton score using standardized technique during initial musculoskeletal examination 1
2. Evaluate for systemic features including skin texture, family history, and extra-articular manifestations 1
3. Screen for red-flag symptoms requiring subspecialty referral (GI symptoms, orthostatic intolerance, episodic systemic symptoms) 7, 5
4. Consider genetic testing to exclude alternative diagnoses, particularly if phenotype is atypical or family history suggests other heritable disorders 2
5. Refer to multidisciplinary team for confirmation and comprehensive management planning, especially before considering surgical intervention 8