Poster Session 2, 11:30 AM - 12:15 PM: Campus Center Auditorium [A15]

Collagen Dysfunction and Joint Instability in Ehlers-Danlos Syndrome

Presenter: Ahmad H. Hamad

Faculty Sponsor: Reena Randhir

School: Springfield Technical Community College

Research Area: Biology

ABSTRACT

Connective tissues function to maintain the integrity of joints, tendons and ligaments. Connective tissue disorders such as Ehlers Danlos Syndrome (EDS) are caused by genetic mutations that affect collagen production and organization representing a heterogeneous group of clinical subtypes. These abnormalities lead to weakened tissue and therefore joint instability, chronic pain, and functional impairment. Decoding the pathophysiology of EDS is essential to facilitate early diagnosis, prevent joint damage, and ensure long-term care. The aim of this study was to investigate to what extent collagen undermines joint stability in EDS and the influence of physiotherapy. A systematic literature review from PubMed was followed to study collagen structure, genetic mutations and rehabilitation centric interventions. Research indicates mutations in collagen related genes (COL3A1, COL5A1, and COL5A2) lead to alterations in the structure of the collagen fibril and decreased tensile strength. Studies also show an increased prevalence of joint hypermobility, recurrent dislocations and decreased proprioception in EDS with reduced muscle strength and neuromuscular function. Physical therapy regimens such as progressive strengthening, proprioceptive and neuromuscular training show joint stabilization and reductions in pain with improved joint stability and strength. Those who took part in structured rehabilitation had better functional mobility and less mechanical stress on the joints they relied on. In summary, collagen based dysfunction is at the heart of joint instability in EDS. Timely diagnosis and regular physiotherapy are crucial for reducing morbidity and enhancing quality of life. Early intervention could avert long-term joint damage. Research to develop standardized EDS rehabilitation regimens, as well as to improve screening and focus on advancing subtype-specific care is required.