Diagnosis of Amyloidosis: Clinicopathological Advances and Challenges

Abstract

Amyloidosis is a systemic disease with different subtypes of misfolded, insoluble proteins, which are deposited in viscera and thereby cause damage to the affected organs. Its clinical manifestations are highly variable depending on the organs and tissue affected and often require a high degree of clinical suspicion to achieve correct diagnosis. Development of proteomic tools, radioisotope scintigraphy, immunologic antibody targets by immunohistochemistry, immunofluorescence and microscopic techniques have improved the sensitivity of accurate detection of specific subtypes of amyloid proteins. Newer therapeutic targets have been developed to arrest or suppress the specific types of amyloid proteins, giving rise to the possibility of targeted therapy with better quality of life and improved survival benefits for patients. AL, ATTR, AA and ALECT2 are the major subtypes of amyloidosis and kidney, heart, soft tissue, and peripheral nerves are the most affected viscera. The key to achieving success in better quality of life and overall survival in patients, is in early diagnosis and accurate subtyping of amyloidosis.