Can a nurse practitioner (NP) diagnose Ehlers-Danlos syndrome?

Can Nurse Practitioners Diagnose Ehlers-Danlos Syndrome?

Nurse practitioners should not independently diagnose Ehlers-Danlos syndrome (EDS) as medical geneticists are the primary specialists for diagnosing and classifying EDS. 1

Diagnostic Authority for EDS

• Medical geneticists are the primary specialists who diagnose and classify EDS due to their expertise in evaluating inherited connective tissue disorders and ability to coordinate appropriate genetic testing 1
• The diagnostic process for EDS typically begins with referral to a medical geneticist for suspected cases 1
• While primary practitioners (including NPs) may identify suspected cases, they face significant barriers in diagnosing and managing EDS due to limited knowledge and comfort with the condition 2

Multidisciplinary Diagnostic Approach

• For hypermobile EDS (hEDS), which represents 80-90% of EDS cases, diagnosis is primarily clinical as no specific genetic markers have been identified 1
• Rheumatologists often evaluate joint hypermobility using the Beighton scale (score ≥5 required for diagnosis) 1
• Gastroenterologists may screen for EDS using the Beighton score and apply the 2017 diagnostic criteria for hEDS or refer to specialists when appropriate 3
• Cardiologists evaluate for aortic root dilation, which occurs in 25-33% of classic and hypermobile EDS types 1

Screening Role for Nurse Practitioners

• Nurse practitioners may play an important role in identifying potential EDS cases through recognition of key symptoms and appropriate referral 4
• Gastroenterology providers (including NPs) seeing patients with disorders of gut-brain interaction should inquire about joint hypermobility and consider incorporating the Beighton score as a screening tool 3
• If screening is positive, gastroenterology providers may consider applying 2017 diagnostic criteria for hEDS or offer appropriate referral to a specialist 3

Diagnostic Pitfalls to Avoid

• Failure to recognize vascular EDS, which carries significant mortality risk from arterial or organ rupture 1
• Inappropriate invasive diagnostic procedures in vascular EDS patients, which can lead to fatal complications 1
• Delayed diagnosis is common due to the high degree of phenotypic variability, with patients often correctly diagnosed only after years of seemingly unrelated but debilitating injuries and illnesses 4

Barriers to Diagnosis

• Providers report wanting clinical practice guidelines in formats that are easily accessible and usable 2
• Limited information on the role of primary care providers in EDS management and coordination with specialty care creates barriers to diagnosis 2
• The heterogeneous nature of EDS (13 recognized subtypes) with symptom overlap makes diagnosis challenging even for specialists 5

Conclusion

While nurse practitioners can play a valuable role in screening and identifying potential EDS cases, the formal diagnosis should be made by medical geneticists who have specialized training in connective tissue disorders and can coordinate appropriate genetic testing and multidisciplinary care 1, 4. Early recognition and referral by nurse practitioners can help reduce diagnostic delays and improve patient outcomes.