Light chain amyloidosis (AL) is a rare and underdiagnosed disease. The best treatment available is autologous bone marrow transplantation (BMT). Cardiac involvement is the main prognostic determinant in this pathology and sometimes an impediment to receive BMT. We present a clinical case of a 44-year-old who consulted for signs and symptoms of heart failure (HF) with elevated cardiac biomarkers. A transthoracic echocardiogram showed increased wall thickness with global hypokinesia and mildly impaired ejection fraction (50%). The patient was admitted to the coronary unit for treatment with diuretics and for etiological study of the condition. In view of the suspicion of infiltrative disease, a bone scintigraphy with pyrophosphate and free light chains in serum were requested. The bone scintigraphy was not suggestive of transthyretin amyloidosis and the free light chains showed a ratio of less than 0.26 with lambda predominance. A gum biopsy was performed and confirmed the diagnosis of AL amyloidosis. After diagnosis, specific chemotherapy treatment with Cyclophosphamide, Bortezomib and Dexamethasone (CYBORD scheme) and Daratumumab was started. He evolved with refractory HF so it was decided to admit him to the cardiac transplantation list, receiving the same soon after, with good evolution. This allowed the patient to restart the chemotherapy regimen and finally receive BMT, with good evolution.
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Acta Cardiol Sin
January 2025
Division of Cardiology, Cardiovascular Medical Center, and Department of Nuclear Medicine, Far Eastern Memorial Hospital, New Taipei City.
This 2025 updated consensus outlines the diagnostic strategy for transthyretin amyloid cardiomyopathy (ATTR-CM). Given that ATTR-CM is a significant contributor to heart failure, this article emphasizes the importance of making an early and precise diagnosis, particularly as new therapeutic options become available. Highlighting the critical importance of an early and accurate diagnosis, particularly in light of emerging therapeutic modalities, this consensus underscores the central role of Tc-pyrophosphate (PYP) scintigraphy as a non-invasive diagnostic tool.
View Article and Find Full Text PDFJ Hand Surg Asian Pac Vol
January 2025
Department of Orthopaedic Surgery, Kochi Medical School, Kochi University, Nankoku, Japan.
Carpal tunnel syndrome (CTS) due to amyloid deposition was reported to precede fatal cardiac amyloidosis by several years. Although nerve conduction study (NCS) supports CTS diagnosis, the incidence of positive amyloid deposition in electrophysiologically proven CTS is unclear. We retrospectively analysed the demographic data including age, gender, bilateral hand involvement, amyloid deposition and NCS results, of 111 consecutive CTS patients with postoperative symptom improvement (mean 71.
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.
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
Unit of Clinical Pathology, Department of Medical and Surgical Sciences, University of Foggia, University Hospital "Policlinico Riuniti", Viale Luigi Pinto, 71122 Foggia, Italy.
Monoclonal gammopathy of renal significance (MGRS) refers to a group of renal disorders caused by a monoclonal immunoglobulin (MIg), secreted by a non-malignant B-cell clone. Unlike overt multiple myeloma or B-cell proliferation, MGRS does not meet those diagnostic criteria. However, it is associated with significant morbidity, due to severe renal, and sometimes systemic, lesions induced by the MIg.
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