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Giuseppe Agosta

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Articoli con TAG: amiloidosi

Gammopatie monoclonali: quadri clinici principali e ruolo del laboratorio
Monoclonal gammopathies: main clinical pictures and role of the clinical laboratory
<p>The finding of a monoclonal gammopathy both by chance and upon clinical suspicion is becoming more and more frequent and requires in-depth clinical, laboratory and instrumental analyses in order to establish the underlying disease, if any. In the last two decades the improvement of the diagnostic tools has led to the identification and precise definition of several clinical entities pathogenetically linked to the monoclonal gammopathy, thus shrinking the field of the &quot;monoclonal gammopathy of undetermined significance&quot;. Such a striking improvement relies on the increasing sensitivity and accuracy of old analyses and availability of new ones (such as the serum Free Light Chain assay). Currently, data from the clinical biochemistry laboratory provide important clues to the diagnosis and prognosis, and are also crucial for monitoring the therapy. These new achievements, along with the availability of new therapeutic options, allowed a significant, sometimes dramatic improvement of the prognosis of many of the gammopathy-related diseases. In this review the main clinical pictures are described along with the contribution of the clinical biochemistry laboratory to the definition of the diagnosis, the risk profile and the monitoring of the specific diseases.</p>
Biochimica Clinica ; 43(4) 366-383
Rassegne - Reviews
 
Gammopatie monoclonali di significato clinico
Monoclonal gammopathies of clinical significance.
<p>This Opinion is aimed to comment and emphazise the main points raised in a seminal paper published in 2018 in Blood. The paper deals with a number of severe diseases caused by small lymphoid/plasma cell clones. These clones affect different organs by means of the biological properties of the clonal cells themselves and/or of their secretion products such as monoclonal immunoglobulins, cytokines and other molecules. More importantly, the paper also deals with the pathogenetic mechanisms involved in the organ damage and sheds light on most of them. The present comment aims to bring attention to these diseases, but it does not encompass the whole matter. We suggest that the readers involved in this matter refer to the paper in its original version.</p>
Biochimica Clinica ; 43(4) 421-423
Opinioni - Opinions
 
Un caso insolito di mieloma a catene leggere
An uncommon case of light chain multiple myeloma
<p>A 77-year-old patient with a long-lasting stable proteinuria was admitted to the Nephrology Department for the recent onset of nephrotic syndrome and renal failure. The initial laboratory profile was unremarkable, except for a severe hypogammaglobinemia without monoclonal spike on serum protein electrophoresis. Renal biopsy was performed, showing diffuse amyloidosis; however, immunohistochemistry for light chains was negative, leading to the hypothesis of a genetic amyloidosis. To rule out an AL-type amyloidosis, serum immunofixation and FLC measurement were performed, showing a monoclonal component of lambda light chain with a significant impairment of the kappa/lambda ratio. The bone-marrow biopsy led to the final diagnosis of light chain multiple myeloma. A Bortezomib-based chemotherapy regimen was started, however, despite clinical improvement, lambda free light chains showed a marked increase, leading to a Melphalan-based therapeutic strategy. In conclusion, measurement of FLC ratio was crucial for the diagnosis and the therapeutic monitoring in this troublesome myeloma case.</p>
Biochimica Clinica ; 42(1) e12-e14
Casi clinici - Case report
 
La misura delle catene leggere libere indentifica la ricaduta di malattia e orienta per una rivalutazione della tipizzazione dell’amiloide in una paziente con amiloidosi AL
Free light measurement identifies relapse and prompts to reconsider amyloid typing in a patient with AL amyloidosis
<p>The detection and quantification of amyloidogenic light-chains (LC) is necessary for diagnosis and evaluation of response in AL amyloidosis. A 69 years old woman was initially diagnosed, in another center, with AL-<span style="font-family:calibri,sans-serif; font-size:11.0pt">&lambda;</span> amyloidosis with renal and soft tissue involvement in December 2001. After 4 cycles of therapy with melphalan and dexamethasone serum and urine immunofixation were negative and, after cycle 6, complete remission was confirmed. Free light chain (FLC) ratio was normal until June 2006, when proteinuria increased, and an elevated k-FLC concentration with abnormal k/<span style="font-family:calibri,sans-serif; font-size:14.6667px">&lambda;</span>-ratio was documented. We repeated the abdominal fat aspirate for amyloid typing by immune-electron microscopy that revealed k-LC deposits. The diagnosis was AL-k. A relapse was documented and the patient was started on bortezomib and dexamethasone therapy. After 8 cycles, complete remission was obtained. In this case, FLC allowed the identification of the amyloidogenic-LC, enabling the detection of relapse.</p>
Biochimica Clinica ; 42(2) e15-e17
Casi clinici - Case report