Amyloidosis: Multisystem Spectrum of Disease with Pathologic Correlation
Mark D Sugi1, Akira Kawashima1, Marcela A Salomao1
1From the Department of Radiology and Biomedical Imaging, University of California, 505 Parnassus Ave, 3rd Floor, M391, Box 0628, San Francisco, CA 94143 (M.D.S.); Departments of Radiology (A.K.) and Laboratory Medicine and Pathology (M.A.S.), Mayo Clinic Arizona, Scottsdale, Ariz; Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, Mo (S.B.); Department of Radiology, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minn (S.K.V.); and Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wis (P.J.P.).
Amyloidosis involves protein buildup causing organ damage. Advanced imaging like MRI and nuclear medicine aid in early diagnosis, potentially avoiding biopsies for conditions like cardiac transthyretin amyloidosis.
Area of Science:
- Nephrology
- Cardiology
- Radiology
Background:
- Amyloidosis is characterized by extracellular insoluble protein deposits, leading to multiorgan dysfunction.
- Systemic amyloidosis is linked to plasma cell dyscrasia, chronic inflammation, dialysis, malignancy, or hereditary factors.
- Localized amyloidosis affects organs like skin, airways, and urinary tract, often mimicking malignancy on imaging.
Purpose of the Study:
- To review the diagnostic imaging features of amyloidosis across various organ systems.
- To highlight advancements in MRI and nuclear medicine for diagnosing central nervous system and cardiac amyloidosis.
- To emphasize the importance of early diagnosis for novel therapeutic interventions.
Main Methods:
- Review of imaging findings in amyloidosis, including MRI and nuclear medicine.
- Histological confirmation using Congo red staining and polarized light microscopy.
- Correlation of imaging findings with clinical context and underlying conditions.
Main Results:
- Imaging features of amyloidosis include soft-tissue infiltration and calcification, varying by organ.
- Noninvasive cardiac MRI and skeletal scintigraphy can diagnose cardiac transthyretin amyloidosis without biopsy in specific cases.
- Advancements in imaging offer greater diagnostic specificity for CNS and cardiac involvement.
Conclusions:
- Early diagnosis of amyloidosis is crucial, especially with emerging targeted therapies.
- Advanced imaging techniques can improve diagnostic accuracy and potentially reduce the need for biopsies.
- Understanding imaging patterns is key to suspecting amyloidosis in the appropriate clinical setting.
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