-
Ear, Nose, & Throat Journal Nov 2021We present a case of primary systemic amyloidosis diagnosed by endoscopic sinus surgery. A 75-year-old woman had blurred vision in her left eye; computed tomography and...
We present a case of primary systemic amyloidosis diagnosed by endoscopic sinus surgery. A 75-year-old woman had blurred vision in her left eye; computed tomography and magnetic resonance imaging showed shadows of the bilateral paranasal sinuses. Endoscopic sinus surgery was performed, and amyloidosis was diagnosed by histopathology. She had previously been diagnosed with amyloidosis of the stomach, and therefore, she was diagnosed with primary systemic amyloidosis. A systemic workup for additional amyloid deposits revealed no evidence of other diseases. The patient remained under follow-up without further treatment, as no further amyloid deposition or progression of the lesions was seen. Amyloidosis is a rare condition characterized by the deposition of abnormal protein filaments in the extracellular tissue. Generally, systemic amyloidosis does not involve the head and neck region, and the presence of amyloid in the nasal and paranasal sinus mucosa is more likely to be indicative of a localized process. However, in our patient, the lesions were located in both the sinonasal tract and the stomach, indicating systemic amyloidosis. To our knowledge, there have been no previous reports of systemic amyloidosis involving the sinonasal tract, and therefore, we consider this case to be extremely rare.
Topics: Aged; Endoscopy; Female; Humans; Immunoglobulin Light-chain Amyloidosis; Magnetic Resonance Imaging; Paranasal Sinus Diseases; Paranasal Sinuses
PubMed: 32364447
DOI: 10.1177/0145561320922719 -
Breast Disease 2020We present a case of surgical removal of primary amyloidosis of the breast utilizing an oncoplastic reduction pattern technique. Primary amyloidosis of the breast is a...
We present a case of surgical removal of primary amyloidosis of the breast utilizing an oncoplastic reduction pattern technique. Primary amyloidosis of the breast is a very rare benign disease characterized by accumulation of insoluble amyloid protein. Biopsy is required for definitive diagnosis, and surgical removal of the mass with clear margins is the main treatment for primary amyloidosis. Oncoplastic reduction pattern technique allows for removal of large breast lesions and correction of the resulting defect by combining the extirpative principles of surgical oncology with the aesthetic principles of breast reduction surgery.
Topics: Aged; Biopsy; Breast; Breast Neoplasms; Female; Humans; Immunoglobulin Light-chain Amyloidosis; Immunohistochemistry; Mammaplasty; Margins of Excision; Syndecan-1; Ultrasonography
PubMed: 32310153
DOI: 10.3233/BD-190424 -
Journal of Gastroenterology and... May 2021
Review
Topics: Aged; Dyspepsia; Endoscopy, Gastrointestinal; Female; Gastric Mucosa; Humans; Immunoglobulin Light-chain Amyloidosis; Stomach Diseases
PubMed: 33269499
DOI: 10.1111/jgh.15302 -
Current Treatment Options in Oncology Jul 2022Light-chain amyloidosis is a rare disorder where a small clone of plasma cells is producing excess toxic light chains that deposit in various organs and cause... (Review)
Review
Light-chain amyloidosis is a rare disorder where a small clone of plasma cells is producing excess toxic light chains that deposit in various organs and cause dysfunction. Cardiac involvement is a major determinant of survival and rapid reduction of light chain is critical for recovery of organ function and overall survival. Immunotherapy targeting the clonal plasma cells and amyloid fibrils has emerged as a promising candidate. Daratumumab, both alone and in combinations with other anti-myeloma agents, is able to achieve deep hematologic responses and has greatly improved outcomes. Isatuximab, elotuzumab, and CAEL101 have also shown promising results and further studies are ongoing in the frontline as well as the relapsed/refractory setting. The frailty of AL patients and the relapsing/remitting nature of the disease present unique challenges, and the low toxicity of monoclonal antibodies makes them well-suited for these patients. Other immunotherapy agents including chimeric antigen receptor T cells, bispecific antibodies, and antibody-drug conjugates have altered the landscape in treatment of multiple myeloma, and are in the early phase of evaluation in patients with AL amyloidosis with results eagerly awaited.
Topics: Humans; Immunoglobulin Light-chain Amyloidosis; Immunologic Factors; Immunotherapy; Multiple Myeloma; Neoplasm Recurrence, Local
PubMed: 35635625
DOI: 10.1007/s11864-021-00922-4 -
Blood Advances Oct 2019Bortezomib and dexamethasone with cyclophosphamide (CyBorD) or melphalan (BMDex) are commonly used primary treatments for light-chain (AL) amyloidosis, but limited data...
Bortezomib and dexamethasone with cyclophosphamide (CyBorD) or melphalan (BMDex) are commonly used primary treatments for light-chain (AL) amyloidosis, but limited data exist on bortezomib with immunomodulatory drug combinations. We report our experience with primary therapy with a bortezomib, lenalidomide, and dexamethasone (VRD) "light" regimen in 34 consecutive patients with AL amyloidosis. The majority (79%) had cardiac involvement, 15% and 23% were Mayo stage 3A and 3B, respectively, and 54% had renal involvement. After the first VRD cycle, 71% of patients achieved a hematologic response (44% at least very good partial response [VGPR]). On intent to treat, 11 (32%) achieved a complete response (of whom 5 of 11 were minimal residual disease [MRD] negative at 10-5), 17 (50%) a VGPR, and 2 (7%) a partial response. The 12-month survival was 73%. Starting lenalidomide dose was 5 mg in 86% of patients. Hematologic toxicity was mild; nonhematologic toxicities included rash (grade 3/4 [16%]), infections (grade ≥3 [12%]), constipation (grade ≥3 [9%]), and peripheral neuropathy (grade 2 [20%]); 37.5% of patients required lenalidomide dose reduction, 27% discontinued lenalidomide, 38% required bortezomib dose reduction, and 12% discontinued bortezomib. We compared VRD to CyBorD in 68 patients matched for Mayo stage and baseline difference between involved minus uninvolved serum free light chain levels, and observed a trend for deeper response at 3 and 6 months with VRD. In conclusion, VRD can be an active regimen for newly diagnosed patients with AL amyloidosis able to induce very deep hematologic responses at the expense of increased toxicity.
Topics: Aged; Aged, 80 and over; Antineoplastic Combined Chemotherapy Protocols; Biomarkers; Bortezomib; Chromosome Aberrations; Dexamethasone; Female; Humans; Immunoglobulin Light-chain Amyloidosis; Lenalidomide; Male; Middle Aged; Treatment Outcome
PubMed: 31648323
DOI: 10.1182/bloodadvances.2019000147 -
Sao Paulo Medical Journal = Revista... May 2011Primary amyloidosis, also known as AL amyloidosis, is commonly caused by clonal expansion of plasma cells in the bone marrow, thereby segregating light chains of clonal... (Review)
Review
CONTEXT
Primary amyloidosis, also known as AL amyloidosis, is commonly caused by clonal expansion of plasma cells in the bone marrow, thereby segregating light chains of clonal immunoglobulin that settle in tissues in the form of insoluble amyloid fibrils. The aim of this study was to report a case of primary amyloidosis with renal failure, diagnosed in Hospital São João, Porto, Portugal, focusing on the diagnostic difficulties and presenting a literature review.
CASE REPORT
A 68-year-old Caucasian man was admitted to the Internal Medicine Department of the hospital with a condition of anasarca and nephrotic syndrome. After performing a renal biopsy that tested positive using Congo red and immunohistochemistry, lambda light chain amyloidosis was diagnosed. This evolved into terminal renal disease, which led to hemodialysis and several episodes of urinary and catheter infections. He was started on chemotherapy, consisting of bortezomib 0.7 mg/m(2) and dexamethasone 40 mg in six cycles. This led to clinical improvement, stabilization of the illness and good tolerance of the treatment.
CONCLUSION
Amyloidosis is a rare entity that is difficult to diagnose. This is because of the unspecific early clinical manifestations of the disease. The hypothesis of amyloidosis is only considered when specific organ failure occurs. This case consisted of primary amyloidosis with involvement of the kidneys as an initial presentation of the disease and its difficulties were shown, going from the clinical approach to the final diagnosis.
Topics: Amyloidosis; Humans; Immunoglobulin Light-chain Amyloidosis; Male; Middle Aged; Nephrotic Syndrome; Renal Insufficiency
PubMed: 21755253
DOI: 10.1590/s1516-31802011000300009 -
Zhonghua Xue Ye Xue Za Zhi = Zhonghua... Aug 2020
Review
Topics: Factor X Deficiency; Humans; Immunoglobulin Light-chain Amyloidosis
PubMed: 32942824
DOI: 10.3760/cma.j.issn.0253-2727.2020.08.012 -
American Heart Journal Oct 1949
Topics: Amyloidosis; Heart; Humans; Immunoglobulin Light-chain Amyloidosis
PubMed: 18140342
DOI: 10.1016/0002-8703(49)90009-5 -
Clinical Radiology Oct 1964
Topics: Aged; Amyloidosis; Geriatrics; Humans; Immunoglobulin Light-chain Amyloidosis; Pathology; Radiography
PubMed: 14213182
DOI: 10.1016/s0009-9260(64)80017-9 -
Canadian Medical Association Journal Feb 1958
Topics: Aged; Amyloidosis; Humans; Immunoglobulin Light-chain Amyloidosis; Neoplasms, Plasma Cell
PubMed: 13511290
DOI: No ID Found