ABSTRACT
Background: Rare diseases pose unique challenges in diagnosis and management due to their low prevalence and often complex clinical presentations. Radiology has emerged as a crucial tool in the diagnostic process of these conditions, offering valuable insights into the underlying pathophysiology and aiding in treatment planning. However, the role of radiology in rare diseases remains underexplored, necessitating comprehensive assessment to delineate its challenges and opportunities.
Aim: This study aimed to assess the role of radiology in the diagnosis and management of rare diseases, elucidating the challenges faced by radiologists and exploring the potential opportunities for improving patient outcomes.
Methods: A retrospective observational study was conducted, involving a cohort of 120 patients diagnosed with rare diseases. Radiological investigations, including computed tomography (CT), magnetic resonance imaging (MRI), and ultrasound, were reviewed over a study duration spanning from February 2023 to February 2024. Data regarding diagnostic accuracy, imaging modalities utilized, and challenges encountered in interpretation were collected and analyzed.
Results: The study revealed that radiology played a pivotal role in the diagnostic journey of patients with rare diseases, with CT, MRI, and ultrasound collectively contributing to accurate diagnosis in the majority of cases. However, challenges such as image interpretation complexity, limited availability of specialized imaging techniques, and variability in radiological manifestations posed significant hurdles. Despite these challenges, radiology provided valuable insights into disease pathology, facilitating multidisciplinary collaboration and personalized treatment strategies.
Conclusion: Radiology serves as a cornerstone in the diagnosis and management of rare diseases, offering invaluable contributions to patient care. While challenges exist, including interpretational complexities and resource limitations, ongoing advancements in imaging technology present opportunities for enhancing diagnostic accuracy and therapeutic interventions. Collaboration among clinicians, radiologists, and researchers is essential to harness the full potential of radiology in the rare disease landscape, ultimately improving patient outcomes and quality of life.
Keywords: Rare diseases, Radiology, Diagnosis, Management, Challenges, Opportunities, Imaging modalities, Multidisciplinary collaboration.