Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
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Hereditary transthyretin (TTR) amyloidosis (ATTRv) initially presents as a polyneuropathy and/or a cardiomyopathy. Central nervous system (CNS) pathology in ATTRv amyloidosis, including focal neurological episodes, dementia, cerebrovascular bleeding, and seizures, appears around a decade later. Wild-type (WT) TTR amyloidosis (ATTRwt) causes a cardiomyopathy. CNS pathology risk likely also increases in these patients as cardiomyopathy progresses. Herein, we study tafamidis-mediated TTR kinetic stabilisation in cerebrospinal fluid (CSF). ⋯ Tafamidis stabilises TTR in CSF to what is likely a clinically meaningful extent at CSF concentrations achieved by the normal tafamidis dosing regimen.
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Very small case series of patients with apolipoprotein A1 (ApoA1) amyloidosis are available. ⋯ Subjects with the APOA1 Leu75Pro variant displayed minor echocardiographic signs of cardiac involvement, but 14% met echocardiographic criteria for CA. Subjects with suspected CA had a worse outcome.
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Diagnostic algorithms for amyloidosis have evolved over the past decade, particularly with the incorporation of imaging-based techniques to detect amyloid cardiomyopathy. We sought to identify the key sources of amyloidosis misidentification in the community, which lead to false positive referrals to a tertiary centre. ⋯ Recognising these potential sources of diagnostic error in the workup of amyloidosis can improve patient care. Referral to a centre of excellence for amyloidosis helps confirm an accurate diagnosis and avoid mistreatment.