Difficulties in diagnosis and selection of optimal diagnostic methods for hypermobile Ehlers Danlos Syndrome – literature review

Abstract

Introduction and objective. Ehlers Danlos Syndrome-Hypermobile Type (EDS-HT), in which the genetic basis could not be determined and mutations of collagen fibrillar proteins were excluded, is one of the most common types of EDS. It is a disease characterized by many symptoms of varying severity. The purpose of the study is to determine the most important diagnostic factors for EDS-HT based on current literature. Materials and method. Searching PubMed publication databases, Google Scholar and Science Direct, by using a combination of key words: hEDS diagnosis, hypermobile EDS, hypermobility. Brief description of the state of knowledge. 19 papers were selected for the literature review, among which 8 concern the adequacy of the Beighton result in the diagnosis of EDS-HT, and another 11 the quality of life of people with EDS-HT, as well as the assessment and diagnosis of other symptoms accompanying this disease. Conclusions. In order to diagnose EDS-HT, one should be guided not only by the established standard, which is the Beighton score, but also by additional tests that would confirm the diagnostic decision and reduce the risk of error. Extension of diagnostic tests with additional criteria, which are presented in the article, would make diagnoses more accurate and reduce the possibility of false diagnoses. This is very important from the perspective of implementing appropriate treatment and the mental comfort of the patient.

A Systematised Review of the Beighton Score Compared with Other Commonly Used Measurement Tools for Assessment and Identification of Generalised Joint Hypermobility (GJH)

“…Drabik, Bys and Gawda [85] report GJH and H-EDS might be more accurately identified when combining the BS with other assessments.…”

“…Paucity of literature exists on whether a combination of tests would improve the validity of scoring systems. It is possible the BS in conjunction with other methods yields a higher sensitivity compared with a single scoring system [85,30,54].…”

“…A cut off level for GJH was not discussed. ' Drabik, Byś and Gawda [85] JBI LEVEL 5A 'In order to diagnose EDS-HT, one should be guided not only by the established standard, which is the Beighton score, but also by additional tests that would confirm the diagnostic decision and reduce the risk of error. Extension of diagnostic tests with additional criteria, which are presented in the article, would make diagnoses more accurate and reduce the possibility of false diagnoses.'…”

“…There is insufficient data to draw conclusions about the other scoring methods assessed in their review. (Drabik et al, 2020 report GJH and H-EDS might be more accurately identified when combining the BS with other assessments.…”

Cardiac autonomic regulation and joint hypermobility in adolescents with functional abdominal pain disorders

“…33 However, these diagnostic criteria are based on expert opinion which are changing over time. 92 The diagnosis of hEDS rests on medical history and a physical examination including the Beighton score as there is no current biomarker of disease. Our study is the first to provide physiologic evidence that a cutoff score ≥4 may be a more optimal marker of disease as this cutoff provided the best convergence with vagal efficiency.…”