Amyloidosis

Abstract

The heart is frequently involved in systemic amyloidosis. More than 30 precursor proteins have been identified that can form amyloid fibrils in vivo, and determination of the fibril type by immunohistochemistry, proteomics and genetic sequencing is crucial as this guides therapy. Most cases of cardiac amyloidosis are either transthyretin (TTR) type, which can be acquired, especially in men at a later age (wild type) or hereditarily at a younger age, or monoclonal immunoglobulin light chain (AL) type amyloidosis, which is acquired and most often occurs in middle age. Cardiac involvement occurs in about 50% of patients with AL amyloidosis and is the major determinant of prognosis in that condition. There are now several imaging modalities available to allow accurate evaluation of cardiac amyloidosis. The variable organ involvement often leads to delays in diagnosis. Improving awareness of amyloidosis is essential if patients are to be diagnosed early to impact on survival and quality of life.