Primary systemic amyloidosis is a relatively rare disease, caused when abnormal extracellular deposition of fibrillary protein builds up in a variety of target organs, such as heart, kidneys, lungs liver, and so forth. The symptoms of the disease are usually vague, while many kinds of auxiliary or laboratory examinations especially pathologic biopsy can provide a clue for the diagnosis. Here we described a case who had purpura-like lesions in the initial stage, followed by progressive malfunctions in the kidneys, the heart, the lungs, as well as the liver. The final diagnosis was primary systemic amyloidosis determined by skin pathologic biopsy. And the disease led to a fatal outcome within three months after the diagnosis.
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Alzheimers Dement
December 2024
Alzheimer's Center at Lewis Katz School of Medicine, Temple University, Philadelphia, PA, USA.
Background: FDA-approved carbonic anhydrase inhibitors (CAIs) have been shown to attenuate Aβ pathology, neurodegeneration, and cerebrovascular dysfunction in models of Alzheimer's disease (AD) and cerebral amyloid angiopathy (CAA), suggesting a key role for CAs as a novel and previously unexplored target for AD therapy. Amyloid β accumulation severely impairs the cerebral neuro-signaling pathway with a progressive loss in neurotrophic factors (NTFs, i.e.
View Article and Find Full Text PDFBMC Cardiovasc Disord
January 2025
Department of Cardiology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
Background: Systemic light chain amyloidosis is a rare and debilitating disease, especially for which initially presented with digestive tract involvement. Myocardial amyloidosis is highly aggressive with generally poor prognosis and often resulted in missed diagnosis or misdiagnosis with routine examination tools. Multimodality imaging play an important role in diagnosing the amyloidosis effect on multiple organs.
View Article and Find Full Text PDFBr J Haematol
January 2025
Department of Haematology, University College London Hospital, London, UK.
Systemic light chain (AL) amyloidosis is a rare clonal plasma cell disorder characterized by the production of amyloidogenic immunoglobulin light chains, which causes the formation and deposition of amyloid fibrils, leading to multi-organ dysfunction. Current treatment is directed at the underlying plasma cell clone to achieve a profound reduction in the monoclonal free light chain production. The standard-of-care first-line therapy is a combination of daratumumab, cyclophosphamide, bortezomib and dexamethasone (D-VCd regimen), resulting in high rates of haematological and organ responses.
View Article and Find Full Text PDFAACE Clin Case Rep
August 2024
Section of Endocrinology, Diabetes, Nutrition & Weight Management, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts.
Background/objective: Medullary thyroid cancer often results in elevated calcitonin levels, which can cause localized formation of calcitonin amyloid, though rarely complications of systemic calcitonin amyloidosis have been reported. The objective of this report is to encourage awareness of calcitonin amyloid causing nephrotic syndrome in patients with metastatic medullary thyroid cancer.
Case Report: A 65-year-old woman with weakness, fatigue, anasarca, anemia, thrombocytopenia, venous and arterial thrombi, and a cavitary right lung lesion was transferred for care.
Int J Emerg Med
December 2024
Emergency Department, The State Key Laboratory for Complex, Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Background: Systemic amyloidosis is a kind of clinical syndrome in which amyloid is deposited between the cells of various organs in the body, resulting in gradual failure of the function of the affected organs. Depending on the site of amyloid deposition, it may show various clinical symptoms of multiple system involvement.
Patient Concerns: A 44-years-old female with spontaneous giant retroperitoneal hematoma was admitted to the emergency department of Peking Union Medical College Hospital in Mar 2023.
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