New insights into systemic amyloidosis: the importance of diagnosis of specific type

Abstract

Purpose of review: This review aims to summarize recent developments in the area of systemic amyloidoses with emphasis on pathologic diagnosis.

Recent findings: In recent years, management of amyloidosis has shifted from a purely supportive approach to quite diverse, radical and aggressive treatments. The central issue is the understanding that treatment of systemic amyloidoses depends on the molecular type of the amyloid protein. In the United States and the Western world, AL-amyloidosis is the most prevalent type of systemic amyloidosis, but hereditary amyloidoses are being diagnosed with increasing frequency; genetics also plays a role in a subset of familial AA amyloidoses. The biggest challenge is in the diagnosis of AL-type with confidence and in differentiation of AL and hereditary amyloidoses. While careful clinico-pathologic correlation is recommended for all patients with amyloidosis, it is, in itself, not a substitute for amyloid typing.

Summary: The diagnosis of the amyloid type ultimately depends on the examination of the amyloid protein within the deposits. The role of immunohistochemistry - the current standard of care in amyloid typing - is evolving with emergence of alternative biochemical methods. Amyloid, being essentially a protein disorder, presents an attractive venue for the application of proteomics methodologies, despite their inherent complexities.