ABSTRACT

Each and every one of non-transthyretin hereditary amyloidoses is a fascinating subject which can well stand on its own without admitting that it is not related to transthyretin. Transthyretin may have been the first type of hereditary amyloidosis to be characterized and, indeed, certainly has the greatest number of disease associated mutations. Many diseases can be diagnosed by specific laboratory tests whether by tissue biopsy, histochemistry, serum protein analysis, or DNA analysis. In the case of the hereditary amyloidoses, diagnoses are often limited to the histological demonstration of amyloid and few other laboratory procedures. Some of the factors that can be used to settle on a specific diagnosis in the realm of hereditary amyloidosis, or at least point the way to a more definitive laboratory test are listed.