Hypermobile Ehlers-Danlos syndrome/Hypermobility spectrum disorders (hEDS/HSD) are characterized by generalized joint hypermobility, musculoskeletal pain, and minor systemic manifestations without a known molecular basis. Hence, its recognition remains an exclusion diagnosis based on a new set of clinical criteria.
From a point of scientific view, detailed knowledge of the pathogenetic mechanisms is an essential starting point for the development of targeted management/therapies for highly disabling signs that considerably reduce the quality of life and working ability of hEDS/HSD patients. Therefore, unraveling the complexities underlying the etiology of hEDS/HSD and their pathogenetic link with musculoskeletal pain will surely help in having a more feasible diagnostic assessment and/or prognostication of the disorder, and improving the knowledge in mechanisms of musculoskeletal pain generation and chronicization.
Musculoskeletal pain is a great burden for the general population in most developed countries. The proposed research may have a translational relevance and impact on the National Health Systems, considering the huge number of hEDS/HSD patients (several hundred patients with hEDS/HSD clinically evaluated in our Center) and thus reaching a definite diagnosis will stop the expensive and lengthy diagnostic process for these individuals.
Furthermore, the disclosure of the pathogenetic background of these patients will lead to the development of targeted management/therapies that will decrease the prescription of ineffective drugs and unnecessary evaluation, ameliorating patients’ management and treatment of the disease, likely contributing to the improvement of their healthcare.
In this scenario, the findings that will derive from the present research activity could address towards future research for the identification of serum diagnostic biomarkers, which might be a promising approach for non-invasive diagnostic tests for hEDS/HSD patients.
Research Fund: $50,000
Primary Investigator:
Marina Colombi, PhD
Full Professor of Medical Genetics
Department of Molecular and Translational Medicine Institution
University of Brescia
Viale Europa, 11 – 25123
Brescia, Italy
Read update: Read the report.