Can a nurse practitioner (NP) diagnose Hypermobile Spectrum Disorder (HSD)?

Can Nurse Practitioners Diagnose Hypermobility Spectrum Disorder?

Yes, nurse practitioners working in gastroenterology can screen for and diagnose hypermobility spectrum disorders (HSD) using the Beighton score and 2017 diagnostic criteria, though medical geneticists remain the primary specialists for formal EDS classification. 1

Scope of Practice for Diagnosis

Gastroenterology Providers (Including NPs)

• Gastroenterology providers should inquire about joint hypermobility in patients with disorders of gut-brain interaction and incorporate the Beighton score as a screening tool. 2, 1
• When screening is positive, gastroenterologists and their advanced practice providers may apply the 2017 diagnostic criteria to diagnose hypermobile EDS (hEDS) or offer appropriate referral to a specialist where resources are available. 2, 1
• This recommendation explicitly includes nurse practitioners working within gastroenterology practices, as up to 98% of hEDS patients present with GI manifestations. 1

Primary Care Providers

• Primary care physicians play a key role in initial recognition, diagnosis, and patient education for hEDS/HSD. 3
• Primary providers should serve as the medical home, providing initial diagnostic and treatment referrals while connecting patients with specialty care. 4
• The complexity of these conditions requires primary providers to be an essential and integrated part of management, in collaboration with multidisciplinary teams. 4

Diagnostic Approach for NPs

Step 1: Screen with Beighton Score

Calculate the 9-point Beighton scale (score ≥5 indicates hypermobility): 2, 1

• Passive dorsiflexion of each fifth finger >90 degrees (1 point each side)
• Passive apposition of each thumb to flexor surface of forearm (1 point each side)
• Hyperextension of each elbow >10 degrees (1 point each side)
• Hyperextension of each knee >10 degrees (1 point each side)
• Place palms flat on floor when bending forward with knees extended (1 point)

Step 2: Apply 2017 Diagnostic Criteria

For hEDS diagnosis, all major criteria must be met: 2

• Joint hypermobility (Beighton score ≥5)
• Soft or velvety skin with normal or slightly increased extensibility
• Absence of skin or soft tissue fragility

Minor supportive criteria include: 2

• Autosomal dominant family history
• Recurrent joint dislocations or subluxations
• Chronic joint or limb pain
• Easy bruising
• Functional bowel disorders
• Neurally mediated hypotension or POTS
• High narrow palate and dental crowding

Step 3: Determine HSD vs hEDS

• Patients with symptomatic joint hypermobility who do not meet full hEDS criteria are diagnosed with HSD. 3, 5
• Importantly, hEDS and HSD patients show similar disease severity, extra-articular manifestations, and treatment responses, suggesting they should be managed as a single clinical entity. 6

When to Refer to Medical Geneticists

Refer to medical geneticists for: 1

• Formal classification and confirmation of EDS subtype
• Suspected vascular EDS (which carries significant mortality risk and requires genetic testing for COL3A1 mutations)
• Complex cases requiring coordination of genetic testing
• Patients needing comprehensive evaluation of inherited connective tissue disorders

Common Pitfalls to Avoid

• Do not delay diagnosis waiting for genetic testing in suspected hEDS, as no specific genetic markers have been identified for this subtype. 1, 3
• Do not perform universal testing for POTS/MCAS in all hEDS/HSD patients; target testing only to those with clinical manifestations of these conditions. 2
• Do not fail to recognize vascular EDS, which requires immediate specialist referral due to risk of arterial or organ rupture. 1
• Do not dismiss patients who narrowly miss hEDS criteria as having insignificant disease; HSD patients require the same comprehensive management approach. 6

Practical Implementation

NPs should establish themselves as the medical home for these patients, coordinating multidisciplinary care while managing common manifestations. 4 This includes:

• Initiating physical therapy referrals for joint stability 7
• Managing GI symptoms with appropriate testing and treatment 2
• Screening for and managing comorbid POTS and MCAS when clinically indicated 2
• Coordinating with cardiology for echocardiogram to evaluate aortic root dilation 7, 1

The barrier to NP involvement is not scope of practice but rather lack of available specialty training and consensus guidelines, which should be addressed through educational initiatives. 4