Pitfalls in the Diagnosis of Primary Amyloidosis

Cheng E. Chee; Martha Q. Lacy; Ahmet Dogan; Steven R. Zeldenrust; Morie A. Gertz


Clin Lymphoma Myeloma. 2010;10(3):177-180. 

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Besides a comprehensive history and physical examination, these cases have identified that current techniques used to precisely diagnose types of amyloidosis remain less than optimal. Physician awareness is important, noting that not all cases of amyloidosis with a monoclonal protein are indeed AL amyloidosis and that patients with amyloidosis can have underlying MGUS. Also, a negative family history is not a reliable screening tool to rule out hereditary amyloidosis. The question arises if all cases of amyloidosis should undergo genetic testing as suggested by some authors. In our experience, mass spectrometry has proved to be an invaluable tool in dissecting the cases with high accuracy when conventional methods have failed. The high sensitivity and specificity of mass spectrometry was demonstrated by a recent study.[23] It is also a convenient test that can be performed on paraffin-embedded tissue or fat aspirates, allowing smaller centers to mail the samples to large academic institutions for tissue processing. As this novel test is not readily available, reproducibility is not well established across the country. Currently, mass spectrometry is used routinely in our institution in any case of amyloidosis as we believe that definitive typing is crucial in the management of this disease.


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