Musculoskeletal Imaging a Potential Diagnosing Tool in Rare Diseases
Musculoskeletal imaging, particularly ultrasound, may be an important tool in diagnosing rare diseases, according to a study published in the Journal of Ultrasonography. This diagnostic tool has the potential to influence clinical pathways.
A multidisciplinary clinical Center, including 621 main rare diseases, was activated in 2017. One radiologist systematically evaluated all conditions involving the musculoskeletal system from September 2018 to January 2018. A second radiologist verified the list for consistency.
In total, 16% of rare diseases were initially diagnosed with medical imaging. Of those, 36% had rare diseases involving the musculoskeletal system (39% were pediatric disease, 28% were adult age diseases, and 33% were all ages diseases). MRI could be used to diagnose 64%, CT scans in 53%, X-ray in 64%, ultrasound in 25%, and PET in 3%.
The authors concluded: “Musculoskeletal imaging could be important for a non-invasive diagnosis in up to 36/101 (36%) rare diseases, as well as for outcome prediction, especially in pediatrics. Musculoskeletal imaging plays a crucial role in the diagnosis of rare diseases and could strongly influence the clinical pathway. Ultrasound is crucial in up to 25% of patients with rare diseases affecting the musculoskeletal system.”
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The primary role of radiological imaging in the diagnosis of rare musculoskeletal diseases. emphasis on ultrasound. J Ultrason. 2019;19(78):187-192. DOI: 10.15557/JoU.2019.0028.