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Diagnosis and Classification of Amyloidosis



Subtyping

Slide 8

December 2009

To identify the protein causing the amyloidosis, many practices use clinical parameters and surrogate laboratory studies. These may include serum protein electrophoresis, urine protein electrophoresis, immunofixation, assessment of serum free light chain levels, bone marrow examination and mutation analysis for hereditary amyloidosis. However, a monoclonal paraprotein may be absent in AL amyloidosis up to 15% of cases; a monoclonal paraprotein may be present up to 25% of hereditary amyloidosis, and the presence of a germline mutation in an amyloid-associated gene does not necessarily indicate that it is pathogenic. Therefore, tissue- based typing of amyloidosis is essential for disease management.

Subtyping

 


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