Amyloidosis a rare disorder characterised by the deposition of amyloid protein aggregates in different organ systems throughout the body with resulting functional impairment of affected organs. It can present with localised or multisystemic deposits. Diagnosis is often delayed due to the non-specific nature of the symptoms. We present the case of a 59-year-old man with a 12-month history of non-specific symptoms. Investigations revealed positive gastritis. Blood tests showed only a normocytic anaemia and thrombocytopaenia. CT scan showed proximal sigmoid thickening. Biopsies were unremarkable. Echocardiogram and cardiac MRI scan showed restrictive cardiomyopathy. Congo red staining of gastric biopsies showed amyloid deposition. The patient had elevated serum kappa light chains and a bone marrow biopsy confirmed multiple myeloma and he was subsequently diagnosed with systemic light chain (AL) amyloidosis secondary to this. He was started on chemotherapy and parenteral nutrition; however, he deteriorated rapidly and so was started on palliative treatment and discharged home.
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http://dx.doi.org/10.1136/bcr-2018-225301 | DOI Listing |
J Card Fail
January 2025
Amyloidosis Speakers Bureau/Mackenzie's Mission. Electronic address:
Background: Amyloidosis is a complex multi-systemic disease. Lack of knowledge about amyloidosis and subsequent mis- or under-diagnosis are major obstacles to treatment, which result in life-threatening organ damage, heart failure, morbidity, and mortality. At present, medical didactic education about amyloidosis leaves new physicians woefully unprepared to suspect and diagnose amyloidosis.
View Article and Find Full Text PDFNeurol Ther
January 2025
Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.
Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a genetic disorder characterized by the deposition of misfolded transthyretin (TTR) protein in tissues, resulting in progressive dysfunction of multiple organs, including the nervous system, heart, kidneys, and gastrointestinal (GI) tract. Noninvasive serum biomarkers have become key tools for diagnosing and monitoring ATTRv. This review examines the role of available biomarkers for neurological, cardiac, renal, gastrointestinal, and multisystemic involvement in ATTRv.
View Article and Find Full Text PDFAutoimmun Rev
December 2024
Department of Clinical Immunology and Internal Medicine, CHU of Caen Normandie, 14000 Caen, France; Normandie Univ, UNICAEN, CHU de Caen Normandie, 14000 Caen, France.
Systemic lupus erythematosus (SLE) is an autoimmune disease whose pathophysiology remains incompletely understood, involving genetic and epigenetic factors. However, an increasing small subset of patients present with monogenic lupus, providing insight into the pathogenesis of the disease. This systematic review focuses on SLE associated with A20 haploinsufficiency (HA20), a monogenic disorder associated with tumor necrosis factor alpha-induced protein 3 gene (TNFAIP3) variants.
View Article and Find Full Text PDFMuscle Nerve
February 2025
Colorado Center for Personalized Medicine, Aurora, Colorado, USA.
Introduction/aims: Hereditary transthyretin amyloidosis (ATTRv) is a genetic condition caused by pathogenic variants in the transthyretin (TTR) gene resulting in multisystem amyloid deposition, especially in peripheral nerve and heart. Information on the prevalence of ATTRv in the United States is limited. The objective of this study was to understand the prevalence and genetic ancestry in the Val142Ile population in a large regional US population.
View Article and Find Full Text PDFBMJ Case Rep
December 2024
Hematology Oncology, Cleveland Clinic, Cleveland, Ohio, USA
Amyloidosis is a rare, multisystem disease that leads to deposition of misfolded proteins in various organs. This case report presents a patient with cancer with a rare diagnosis of diffuse alveolar-septal transthyretin (TTR) amyloidosis with subsequent protein electrophoresis identifying monoclonal gammopathy of unknown significance. It highlights the association of amyloidosis with malignancy and the importance of including workup for plasma cell dyscrasias in patients found to have TTR amyloidosis.
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