What diagnostic is required?

It is crucial to demonstrate amyloid accumulation in a biopsy. It may be a biopsy from a suspected involved organ, e.g. kidney or heart, or from an easily accessible area from skin or rectum. Widespread, general accumulation can usually be demonstrated via a skin biopsy instead of a kidney biopsy, which has a greater risks of causing hemorrhaging. However, a biopsy from the involved organ is often necessary.

Once a biopsy has demonstrated presence of amyloid, the next crucial step is to determine which type of protein the amyloid consists of. This can be done using different advanced techniques using stain microscopy, electron microscopy or mass spectrometry. Electron microscopy or mass spectrometry is considered the most reliable method for precise and certain diagnostic of the protein. In case of a protein that can be associated with a hereditary disease, a genetic investigation into this disease will be initiated.

In case of an amyloid being demonstrated in an organ, a rather comprehensive examination program will be initiated to maintain how widespread the accumulation is in the body, if other organs are affected, and to what degree.