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. Material and Methods 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.

Keywords

• ehlers-danlos syndrome
• eds-ht diagnosis
• hipermobility type
• heds