Cardiac Amyloidosis with theE526VMutation of the Fibrinogen A α-Chain

Hereditary fibrinogen A α-chain amyloidosis: phenotypic characterization of a systemic disease and the role of liver transplantation

“…All reported cases to date have been diagnosed through renal pathology, during investigation for hypertension, kidney impairment, and proteinuria, frequently identified during routine medical screening. However, in light of the findings in this series, corroborated by another recent report, 32 bias toward underdiagnosing cases with predominantly cardiovascular amyloidosis, in the absence of readily accessible tissue for histologic sampling, cannot be excluded and may account for the apparent reduced penetrance. We have identified a high incidence of cardiovascular atheromatous disease among our patients, often predating evolution of proteinuria or renal impairment by many years.…”

Organ Transplantation in Hereditary Fibrinogen A α-Chain Amyloidosis: A Case Series of French Patients

“…Another observation that supports KT rather than LKT is the low incidence of clinically significant extrarenal manifestations. Moreover, these were mostly peripheral neuropathy and carpal syndrome documented in E526V patients, except for one previously published case of cardiac involvement (29). Of note, 66% of our Afib-amyloidosis patients had cardiovascular manifestations that were not related to Afib-amyloidosis deposits, but were likely a consequence of kidney failure and hypertension as previously reported (8).…”

Amyloidose des Herzens

“…Zu den systemisch auftretenden erblichen Amyloidosen zählen außerdem die Fibrinogen-α (AFib)-, Apolipoprotein-AI (AApoAI)-und Lysozym (ALys)-assoziierten Amyloidosen, die eine Rarität darstellen [7,8,34]. Bei folgenden hereditären Amyloidosen wurde ein Befall des Herzens beschrieben: AApoAI-Amyloidose [10,11,29]; AFib-Amyloidose [28] und ATTR-Amyloidose [1,3,24,33].…”