Amyloidosis with Cardiac Involvement: Identification, Characterization, and Management

Abstract

Purpose of Review Amyloidosis is a protein deposition disease whereby a variety of precursor proteins form insoluble fibrils that deposit in tissues, causing organ dysfunction and, many times, death. Accurate characterization of the disease based on the nature of the precursor protein, organ involvement, and extent of disease is paramount to guide management. Cardiac amyloidosis is critical to understand because of its impact on prognosis and new treatment options available. Recent Findings New imaging methods have proven to be considerably valuable in the identification of cardiac amyloid infiltration. For treating clinicians, a diagnostic algorithm for patients with suspected amyloidosis with or without cardiomyopathy is shown to help classify disease and to direct appropriate genetic testing and management. For patients with light chain disease, recently introduced treatments adopted from multiple myeloma therapies have significantly extended progression-free and overall survival as well as organ response. In addition, new medical interventions are now available for those with transthyretin amyloidosis. Summary Although cardiac amyloidosis contributes significantly to the morbidity and mortality associated with systemic disease, new tools are available to assist with diagnosis, prognosis, and management.

Suspicion, screening, and diagnosis of wild‐type transthyretin amyloid cardiomyopathy: a systematic literature review

“…Among the 50 articles containing a diagnostic pathway for ATTRwt CM, 36 articles were review studies 4,10–44 . The 14 remaining articles were consensus recommendation papers, 2,5,45–51 cohort studies, 52–56 or guidelines 57 .…”

“…The speciality areas of the journals publishing the included articles can be considered an indicator of the clinical societies focusing on ATTRwt CM patients. Notably, 43 of 50 articles were published in a journal within cardiology or haematology, 2,4,10–28,32–38,40–43,45–49,51–57 while the remaining seven articles were published in papers of general or internal medicine 5,29–31,39,50 or oncology 44 . No articles were published in journals within neurology or orthopaedics.…”

“…Thirty articles 2,3,5,11,12,16,18–23,25–27,32–34,36,37,40–42,44–49,56,57 mentioned HFpEF as a suspicion criterion for wild‐type ATTRwt CM, or at least for CA. Prospective studies referred to reported between 6% and 18% of patients with HFpEF to have ATTRwt 1,58,59 .…”

“…Autonomic and peripheral neuropathy was included as a typical symptom in 35 articles 2,4,5,10,11,14,15,17–23,27–31,33,34,37,39,41–51,56,57 . Most articles, however, primarily discussed neuropathy in relation to ATTRv CM and, accordingly, only referred to ATTRv CM data.…”

“…All but four 26,29,52,54 articles included a biopsy as a part of their diagnostic pathway. As illustrated in Figure , 20 of these articles argued that a biopsy is needed in case of inconclusive results from the bone scintigraphy and/or abnormal results from the tests conducted to exclude AL amyloidosis 2,4,12,13,15–18,20–23,25,27,33,35–41,43,45–51,53,55,56 . Also, 28 articles 2,4,5,10,12,14,16–19,21–25,28,30,32,34,38–41,45,46,49,51,57 suggested that one way to diagnose ATTR‐CM is with a biopsy after a positive monoclonal protein test ( Figure ).…”