The diagnostic journey in adults with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

BACKGROUND

Researchers have identified lengthy diagnosis delays in patients with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders (hEDS/HSD), but the reason for these delays is unclear.

OBJECTIVE

This review seeks to synthesize the existing qualitative research about hEDS/HSD to understand the reasons for diagnosis delay.

DATA SOURCES: We searched PubMed, Scopus, CINAHL, Google Scholar, and Dissertations and Theses databases for all qualitative studies about hEDS/HSD that mentioned the diagnosis process. A total of 283 studies were retrieved, from which we identified 13 studies to include in this synthesis.

CONCLUSIONS

The reviewers identified and organized diagnosis delay themes under four overarching categories: disease, patient, provider, and system. Disease factors included the nature of the symptoms and lack of a confirmatory test. Patient factors included psychological and emotional responses, seeing multiple providers, and receiving multiple diagnoses. Provider factors related to limited knowledge and attitudes. System factors included silo-based health care systems and bureaucratic barriers.

IMPLICATIONS FOR PRACTICE: Diagnosis delays result from complex, overlapping, and interacting factors. Nurse practitioners have a critical role in improving care and reducing diagnosis delays in patients with hEDS/HSD. Further research is needed to understand the causes and consequences of diagnosis delays in hEDS/HSD.