Cardiac amyloidosis is a group of diseases characterized by the deposition of amyloid fibers in cardiac tissue. Two forms are mainly reported: light chain (AL) and transthyretin (ATTR) amyloidosis. Among the complications of transthyretin amyloidosis there are thrombotic events and, to a lesser extent, hemorrhagic events. The latter are likely caused by perivascular amyloid deposition resulting in capillary fragility, in addition to INR lability during anticoagulant therapy. The onset of thrombotic events may be caused by the high prevalence of atrial fibrillation (AF), mechanical cardiac dysfunction and atrial myopathy observed in patients with transthyretin amyloidosis. It remains unclear why thromboembolic events occur even in patients with sinus rhythm or adequate anticoagulation, though a hypercoagulable state or underlying inflammation may be involved. We report a case of cryptogenic ischemic stroke in an 86-year-old woman with transthyretin amyloidosis and sinus rhythm. Traditional coagulation tests, whole blood rotational thromboelastometry and impedance aggregometry did not show a hypercoagulable state. The thrombin generation assay did not reveal a prothrombotic state. However, the study of extracellular vesicles highlighted underlying immune-mediated endothelial damage likely responsible for the thrombotic diathesis. It could be hypothesized that inflammation plays a role in the hypercoagulability of patients with transthyretin amyloidosis. Larger prospective studies are needed to validate our hypothesis.
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http://dx.doi.org/10.3389/fcvm.2024.1386733 | DOI Listing |
Cureus
December 2024
Graduate Medical Education (GME) Internal Medicine, Mary Washington Healthcare, Fredericksburg, USA.
Cardiac amyloidosis is a rare but increasingly recognized cause of heart failure, often underdiagnosed until later stages of the disease. This report describes a case of transthyretin amyloidosis (ATTR) in a 68-year-old male patient with a significant medical history of rheumatoid arthritis (RA), a combination seldom documented in the literature. The patient presented with progressive symptoms of heart failure, and diagnostic testing confirmed ATTR cardiac amyloidosis through pyrophosphate (PYP) scanning.
View Article and Find Full Text PDFExpert Rev Pharmacoecon Outcomes Res
January 2025
Fondazione ReS (Ricerca e Salute) - Research and Health Foundation, Roma, Italy.
Background: This retrospective observational study described the epidemiology and the burden on the Italian healthcare service (SSN) of patients with polyneuropathy (PN) associated to the hereditary transthyretin amyloidosis (ATTRv).
Research Design And Methods: From the Fondazione ReS (Ricerca e Salute) administrative healthcare database (~5.5 million inhabitants in 2021), patients were identified as having ATTRv-PN in 2021 if they had received treatments for ATTRv-PN under SSN reimbursement (i.
Medicina (Kaunas)
December 2024
Fundeni Clinical Institute, 022328 Bucharest, Romania.
: Amyloidosis is a disorder characterized by the abnormal folding of proteins, forming insoluble fibrils that accumulate in tissues and organs. This accumulation disrupts normal tissue architecture and organ function, often with serious consequences, including death if left untreated. Light-chain amyloidosis (AL) and hereditary transthyretin-type amyloidosis (hATTR) are two of the most common types.
View Article and Find Full Text PDFJ Clin Med
December 2024
Department of Internal Medicine, Division of Cardiology, Medical University of Vienna, 1090 Wien, Austria.
Variant transthyretin amyloidosis cardiomyopathy (ATTRv-CM) is a rare form of cardiac amyloidosis associated with many possible mutations in the transthyretin gene, presenting as various distinct clinical phenotypes. Among these, the His108Arg mutation is the most prevalent TTR variant in Austria. However, data describing its clinical phenotype are lacking.
View Article and Find Full Text PDFJ Clin Med
December 2024
Pfizer S.L.U., 28108 Madrid, Spain.
Hereditary transthyretin amyloidosis (ATTRv) is an autosomal-dominant systemic disease, where amyloid fibrils accumulate especially in the peripheral and autonomic nervous systems and in the heart. The aim of the present work was to outline the follow-up and type of management received by asymptomatic carriers (ACs) and stage 1 ATTRv patients in Spain. A cross-sectional, non-interventional study was conducted throughout seven experienced hospitals in Spain.
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