Articles: amyloidosis.
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Primary tracheal diffuse large B-cell lymphoma (DLBCL) is a rare, aggressive, but potentially curable malignancy that is difficult to diagnose and treat. We herein report a 93-year-old Japanese man diagnosed with primary tracheal DLBCL after presenting with progressive dyspnea due to severe upper tracheal stenosis during follow-up for pulmonary amyloidosis. ⋯ The patient's history of pulmonary amyloidosis may have contributed to the development of tracheal DLBCL. An evaluation of the risks and benefits of various therapeutic interventions is crucial for providing optimal patient-specific care.
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Clinical manifestations secondary to amyloid deposition in connective tissue may allow early detection of amyloidosis. We sought to identify the prevalence of connective tissue amyloidosis in patients undergoing orthopedic surgery and evaluate for cardiac involvement. ⋯ In this study, 4.2% of patients referred for orthopedic surgery presented transthyretin amyloidosis in the affected connective tissue.
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Cardiac amyloidosis (CA) is an infiltrative restrictive cardiomyopathy caused by the deposition of amyloid fibrils in the myocardium. It manifests in two primary subtypes: transthyretin cardiac amyloidosis (ATTR) and immunoglobulin light chain cardiac amyloidosis (AL). ATTR is further classified into wild-type and hereditary based on transthyretin gene mutation. ⋯ Noninvasive diagnostic tools such as electrocardiography, echocardiography, and cardiac magnetic resonance can raise suspicion for CA; bone scintigraphy can non-invasively confirm ATTR, while AL necessitates histological confirmation. The severity of ATTR and AL can be assessed through serum biomarker-based staging. Treatment approaches differ, ranging from silencing or stabilizing transthyretin and degrading amyloid fibrils in ATTR to employing anti-plasma cell therapies and autologous stem cell transplantation in AL.
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Often differential diagnosis between AL and ATTR amyloidosis is difficult. Concerning ATTR, sensitive diagnostic tool, as diphosphonate scintigraphy, was validated, instead of no imaging approach is as accurate in AL. Cardiac ultrasound and circulating biomarkers may raise the clinical suspicion but biopsy remains the only option for diagnosis. We aimed to explore the sensitivity of 18F-Florbetaben PET respect to blood tests or periumbilical fat (POF), cardiac, bone marrow (BM) or other tissues biopsies in a cohort of 33 patients.
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Amyloidosis are rare protein misfolding and deposition diseases which, with very few exceptions, are treatable easily nowadays. The prognosis depends on the form of amyloidosis, which is particularly unfavorable for heart involvement that is diagnosed too late. ⋯ Once the diagnosis has been made, treatment should be started without delay. Amyloidosis centers offer support in the diagnosis and development as well as clinical trials of an optimal therapy concept.