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

Abstract

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 silobased 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.

Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome

“…Most participants ( n = 370; 80%) indicated their primary care provider (PCP) was involved in management of their condition as they are perhaps the best‐suited HCP to be the main point of contact for care coordination and referrals. However, previous literature has shown that PCPs are not uniformly aware of hEDS and may benefit from continuing education on the topic as they are often the first HCP to be notified of symptoms by the patient (Anderson & Lane, 2021). PCPs also see a greater frequency of patients with hEDS than those who present to specialists through the recognition of specific symptoms.…”

“…Chronic pain can be a contributor to the psychological burden of disease (Hershenfeld et al, 2016; Pasquini et al, 2014) but it is yet unclear if psychological disorders are a part of the syndrome or develop as a consequence of the condition's debilitating symptoms, patients' diagnostic journeys, previous poor experiences with HCPs, or a combination of these and other factors. Based on the reported experiences of patients with hEDS, there is a clear need for increased awareness and education of HCPs on the spectrum of the condition and its multifaceted nature (Anderson & Lane, 2021).…”

“…The complex symptomology and variable degree of severity have often contributed to the difficulty in establishing a diagnosis of hEDS. This is further compounded by the lack of a known genetic etiology and confirmatory testing (Anderson & Lane, 2021). To mitigate the diagnostic challenges with hEDS, specific clinical diagnostic criteria were established in 2017, incorporating clinical symptoms and family history (Castori et al, 2017; Malfait et al, 2017).…”

“…Achieving a swift and accurate diagnosis is dependent on a physician's knowledge and awareness of the broad range of symptoms. The diagnostic odyssey for patients with hEDS can be long and patients often receive multiple interim misdiagnoses from different providers before being diagnosed with hEDS, leading to frustration with and fractured confidence in the medical system (Anderson & Lane, 2021).…”

Biomechanical changes in the gastrocnemius medius–Achilles tendon complex in people with hypermobility spectrum disorders: A cross-sectional compression sonoelastography study

“…The predominant clinical feature of joint hypermobility, assessed using the Beighton score, is used to guide the identification process, but could be affected by the regression of the condition, and replaced with joint stiffness, which further complicates the diagnostic process. A recent review related the diagnostic delay of hEDS/HSD to the lack of a confirmatory diagnostic approach ( 17 ). Ultimately, there is a need for a more objective diagnostic procedure to improve the subjectivity of existing diagnostic approaches.…”