RESUMO
Monoclonal gammopathy of undetermined significance (MGUS) is a plasma cell disorder that can precede the diagnosis of multiple myeloma. MGUS is characterized by the presence of a monoclonal paraprotein without evidence of multiple myeloma or other lymphoplasmacytic malignancies. Even though MGUS is an asymptomatic condition that does not require management strategies other than periodic follow-up to prevent complications, secondary nonmalignant diseases may arise, requiring control of the plasma cell clone. Acquired von Willebrand syndrome (AVWS) is a rare bleeding disorder that occurs in patients with no prior personal or family history of bleeding. It is associated with several other disorders, such as neoplasia, mainly hematological (including MGUS and other lymphoproliferative disorders), autoimmune, infectious and cardiac diseases. At diagnosis, patients usually present with cutaneous and mucosal bleeding, including gastrointestinal bleeding. Here, we report a case of a patient with MGUS who developed AVWS after one year of follow-up. The patient was refractory to glucocorticoids and cyclophosphamide and achieved remission only after monoclonal paraprotein was eradicated following treatment with bortezomib and dexamethasone. Our report sdemonstrates that, for refractory cases, eradication of the monoclonal paraprotein may be necessary to treat bleeding complications due to MGUS-associated AVWS.
Assuntos
Gamopatia Monoclonal de Significância Indeterminada , Mieloma Múltiplo , Paraproteinemias , Doenças de von Willebrand , Humanos , Gamopatia Monoclonal de Significância Indeterminada/complicações , Gamopatia Monoclonal de Significância Indeterminada/tratamento farmacológico , Bortezomib/uso terapêutico , Mieloma Múltiplo/complicações , Mieloma Múltiplo/tratamento farmacológico , Paraproteinemias/complicações , Paraproteinemias/tratamento farmacológico , Doenças de von Willebrand/complicações , Doenças de von Willebrand/tratamento farmacológico , Proteínas do MielomaRESUMO
Introdução: Síndrome POEMS trata de um raro evento paraneoplásico, sem relato atual na literatura sobre sua real prevalência. A maior parte dos casos ocorre em homens de meia idade. Relato do Caso:Paciente masculino, 65 anos, com queixa edema e parestesia em pernas que evoluiu para plegia, associada a hiporexia e fadiga. Investigação ambulatorial inicial evidenciou Polirradiculoneuropatia Inflamatória Desmielinizante Crônica (PIDC) de etiologia indefinida. Excluídos secundarismos, o paciente foi diagnosticado com hipotireoidismo primário, hipogonadismo severo, lesões hipercrômicas em pele, ascite, derrame pleural e trombocitose, além de gamopatia monoclonal IgA Lambda por imunofixação sérica. Sorologias virais negativas. Excluída a possibilidade de Mieloma Múltiplo e outras gamopatias, foi aventada a hipótese de Síndrome POEMS, sendo realizada dosagem de VEGF plasmática (425 pg/mL; VR = <96.2). Trata-se de um caso atípico na medida em que, lesões ósseas, presentes em até 97% dos casos, não foram evidenciadas no paciente em questão, tornando desafiador o diagnóstico. Conclusões: O diagnóstico de síndromes raras, embora desafiante, traz ao clínico um olhar mais amplo do paciente na medida em que incrementa o raciocínio clínico. [au]
Introduction: POEMS syndrome is a rare paraneoplastic event, with no current report in the literature about its real prevalence. Most cases occur in middle-aged men. Case Report: Male patient, 65 years old, complaining of edema and paresthesia in the legs that evolved to plegia, associated with hyporexia and fatigue. Initial outpatient investigation revealed Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) of undefined etiology. Excluding secondaries, the patient was diagnosed with primary hypothyroidism, severe hypogonadism, hyperchromic skin lesions, ascites, pleural effusion and thrombocytosis, in addition to monoclonal IgA Lambda gammopathy by serum immunofixation. Viral serologies was negative. Excluding the possibility of Multiple Myeloma and other gammopathies, the hypothesis of POEMS Syndrome was raised, and plasma VEGF measurement was performed (425 pg/mL; RV = <96.2). This is an atypical case in that bone lesions, present in up to 97% of cases, were not evidenced in the patient in question, making the diagnosis challenging. Conclusions: The diagnosis of rare syndromes, although challenging, brings the clinician a broader view of the patient as it increases clinical reasoning. [au]
RESUMO
Introdução: Síndrome POEMS trata de um raro evento paraneoplásico, sem relato atual na literatura sobre sua real prevalência. A maior parte dos casos ocorre em homens de meia idade; Relato do Caso: Relatamos o caso de um paciente masculino, 65 anos, admitido com queixa edema e parestesia em pernas que evoluiu para plegia, associada a hiporexia e fadiga. Investigação ambulatorial inicial evidenciou polirradiculoneuropatia inflamatória desmielinizante crônica (PIDC) de etiologia indefinida. Excluídos secundarismos para polirradiculoneuropatia inflamatória desmielinizante crônica, o paciente foi a seguir diagnosticado com hipotireoidismo primário, hipogonadismo severo, lesões hipercrômicas em pele, ascite, derrame pleural e trombocitose, além de gamopatia monoclonal IgA Lambda por imunofixação sérica. Sorologias para HIV, Sífilis e Hepatites todas negativas. Excluída a possibilidade de Mieloma Múltiplo e outras gamopatias, foi aventada a hipótese de Síndrome POEMS, sendo realizada dosagem de Fator de Crescimento Endotelial Vascular (VEGF) plasmática (425 pg/mL; VR = <96.2). O paciente passou então a preencher os critérios obrigatórios para diagnóstico, além de um maior (VEGF elevada) e vários outros menores. Trata-se de um caso atípico na medida em que, lesões ósseas, presentes em até 97% dos casos, não foram evidenciadas no paciente em questão, tornando desafiador o diagnóstico e sendo então necessário recorrer à dosagem de VEGF. O diagnóstico de síndromes raras, embora desafiante, traz ao clínico um olhar mais amplo do paciente na medida em que incrementa o raciocínio clínico. Difundir e explorar esse universo é cada vez mais necessário
Introduction: POEMS syndrome is a rare paraneoplastic event, with no current report in the literature about its real prevalence. Most cases occur in middle-aged men; Case Report: We report the case of a male patient, 65 years old, admitted with complaints of edema and paresthesia in the legs that progressed to plegia, associated with hyporexia and fatigue. Initial outpatient investigation revealed Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) of undefined etiology. Excluding secondaries for chronic inflammatory demyelinating polyradiculoneuropathy, the patient was subsequently diagnosed with primary hypothyroidism, severe hypogonadism, hyperchromic skin lesions, ascites, pleural effusion and thrombocytosis, in addition to monoclonal IgA Lambda gammopathy by serum immunofixation. All serologies for HIV, Hepatitis and syphilis were negative. Excluding the possibility of Multiple Myeloma and other gammopathies, the hypothesis of POEMS Syndrome was raised, and plasma Vascular Endotelial Growth Factor (VEGF) measurement was performed (425 pg/mL; RV = <96.2). The patient then started to fulfill the mandatory criteria for diagnosis, in addition to a major (elevated VEGF) and several other minors. This is an atypical case in that bone lesions, present in up to 97% of the cases, were not evidenced in the patient in question, making the diagnosis challenging and therefore requiring the use of VEGF dosage. The diagnosis of rare syndromes, although challenging, brings the clinician a broader view of the patient as it increases clinical reasoning. Spreading and exploring this universe is increasingly necessary
Assuntos
Humanos , Paraproteinemias , Síndrome POEMS/diagnóstico , Polineuropatia Paraneoplásica , Diagnóstico Diferencial , Doenças do Sistema EndócrinoRESUMO
Antecedentes: La Macroglobulinemia de Waldens- tröm (MW) es un desorden proliferativo en el cual está presente un Linfoma Linfoplasmocitoide (LLP) en la médula ósea y asociado a una gammapatía monoclonal IgM. Con una incidencia global de 3 casos por millón de personas-año, representa aproximadamente el 2% de todas las neoplasias hematológicas. Este es el primer caso documentado de MW en Honduras con confirmación molecular de la mutación MYD88 p.L265P. Descripción del caso: Paciente de 58 años de edad evaluado en 2017 con informe de biopsia que re - porta infiltración linfoplasmocitaria en glándula salival del labio infe- rior, refiriendo 3 meses de epistaxis y gingivorragia, anemia severa, leucopenia, episodios de lipotimia y pérdida de peso. Al examen físico presentó agrandamiento bilateral de glándula parótida y sub - mandibular, múltiples adenopatías cervicales, alteración en glándula tiroides, hepatomegalia leve y esplenomegalia masiva. Se encontra- ron valores elevados de TSH, microglobulina y LDH; eletroforesis y citometría de flujo de médula ósea sugestiva de desorden de IgM monoclonal. Se logró confirmación molecular mediante la detección de la mutación L265P en el gen MYD88. El paciente recibió esque- ma de primera línea con Ciclofosfamida, Adriamicina, Vincristina, Prednisona y Rituximab(CHOP-R), luego por recaída recibió mismo esquema por haber mostrado buena respuesta. Posteriormente, tras una nueva recaída recibió tratamiento con Chlorambucil pre - sentando nuevamente recaída. Se diagnosticó con MW refractaria y es candidato para recibir Ibrutinib; no disponible en nuestro me - dio. Conclusión: La escasa casuística de enfermedad de MW en Honduras dificulta el diagnóstico oportuno y tratamiento óptimo en nuestro medio...(AU)
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Macroglobulinemia de Waldenstrom/diagnóstico , Neoplasias Hematológicas , Paraproteinemias , HepatomegaliaRESUMO
Currently, there is growing evidence in the literature warning of misdiagnosis involving amyloidosis and chronic inflammatory demyelinating polyneuropathy (CIDP). Although inducing clinical manifestations outside the peripheral nervous system, light chain and transthyretin amyloidosis may initially present with peripheral neuropathy, which can be indistinguishable from CIDP, leading to a delay in the correct diagnosis. Besides, the precise identification of the amyloid subtype is often challenging. This case report exemplifies clinical and laboratory pitfalls in diagnosing amyloidosis and subtyping amyloid, exposing the patient to potentially harmful procedures.
RESUMO
Monoclonal gammopathies of uncertain significance (MGUS) correspond to pre-malignant hematological disorders characterized by the production of a monoclonal protein and infiltration of less than 10% of the bone marrow by plasma cells. Its importance lies in the risk of progression to malignant disorders and in the association with different renal, neurological and skin manifestations. There are pathophysiological mechanisms that support a causal relationship between monoclonal gammopathies (MGs) and different skin diseases, such as type I cryoglobulinemia (CG), primary systemic amyloidosis (PSA) or necrobiotic xanthogranuloma (NXG). However, there is a group of skin diseases associated with MGs whose pathogenesis has not been elucidated. In this context, the role of the dermatologist is crucial in the suspicion of different haematological disorders based on skin manifestations and in the multidisciplinary treatment of these patients. In this article, we carry out an exhaustive review of the literature published in this area and propose a screening algorithm for MGs in patients with specific skin diseases.
Assuntos
Humanos , Paraproteinemias/complicações , Dermatopatias/etiologia , Gamopatia Monoclonal de Significância Indeterminada , Amiloidose de Cadeia Leve de Imunoglobulina , Medula ÓsseaRESUMO
Currently, there is growing evidence in the literature warning of misdiagnosis involving amyloidosis and chronic inflammatory demyelinating polyneuropathy (CIDP). Although inducing clinical manifestations outside the peripheral nervous system, light chain and transthyretin amyloidosis may initially present with peripheral neuropathy, which can be indistinguishable from CIDP, leading to a delay in the correct diagnosis. Besides, the precise identification of the amyloid subtype is often challenging. This case report exemplifies clinical and laboratory pitfalls in diagnosing amyloidosis and subtyping amyloid, exposing the patient to potentially harmful procedures.
Assuntos
Humanos , Masculino , Idoso , Amiloidose Familiar/complicações , Paraproteinemias , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/complicações , Erros de Diagnóstico , Amiloidose de Cadeia Leve de Imunoglobulina/complicaçõesRESUMO
O mieloma múltiplo é uma neoplasia progressiva e incurável de células B, caracterizado pela proliferação desregulada e clonal de plasmócitos na medula óssea. A síndrome de hiperviscosidade é uma das complicações relacionadas às gamopatias monoclonais, sendo considerada emergência oncológica. O objetivo deste estudo foi descrever o quadro clínico de um paciente diagnosticado com mieloma múltiplo que apresentou síndrome de hiperviscosidade, avaliando a prevalência de sinais e sintomas, bem como características fisiopatológicas dessa entidade clínica. Foi revisado o prontuário de um paciente internado na enfermaria da Clínica Médica do Hospital Regional do Cariri (CE) no período de junho a julho de 2018. Além disso, foi realizada revisão de literatura em base de dados (PubMed®) direcionada ao tema proposto. O diagnóstico de mieloma múltiplo foi comprovado por mielograma, sendo prontamente iniciada a corticoterapia e avaliada a resposta clínica após essa terapêutica. Apesar de incomum e menos frequentemente relacionada ao mieloma múltiplo, a síndrome de hiperviscosidade está relacionada a uma grande taxa de mortalidade quando apresenta diagnóstico tardio. A terapia de primeira linha indicada para a síndrome de hiperviscosidade foi a plasmaferese, no entanto, as condições clínicas (instabilidade hemodinâmica) impossibilitaram sua realização. O desfecho deste caso foi o óbito do paciente. Concluiu-se que o diagnóstico precoce e a intervenção terapêutica estão diretamente relacionados à ocorrência de menor incidência de complicações relacionadas ao mieloma múltiplo e à síndrome de hiperviscosidade.
Multiple myeloma is a progressive and incurable B-cell neoplasm characterized by unregulated and clonal proliferation of plasmocytes in the bone marrow. Hyperviscosity syndrome is one of the complications related to monoclonal gammopathies and is considered an oncological emergency. The aim of this study was to describe the clinical condition of a patient diagnosed with multiple myeloma who presented hyperviscosity syndrome, evaluating the prevalence of symptoms and signs, as well as the pathophysiological characteristics of this clinical entity. The medical records of a patient admitted to the Internal Medicine ward of the Hospital Regional do Cariri (CE) from June to July of 2018 were reviewed. In addition, we conducted a literature review in a database (PubMed®) directed to the theme proposed. The diagnosis of multiple myeloma was confirmed by myelogram, and corticosteroid therapy was promptly initiated and the clinical response was evaluated after this therapy. Although uncommon and less frequently related to multiple myeoloma, hyperviscosity syndrome is related to a high mortality rate when diagnosed late. The first line therapy indicated to hyperviscosity syndrome was plasmapheresis; however, the clinical conditions (hemodynamic instability) precluded its performance. The outcome of this case was the patient's death. Thus, it was concluded that early diagnosis and therapeutic intervention are directly related to the occurrence of lower incidence of complications related to multiple myeloma and hyperviscosity syndrome.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Viscosidade Sanguínea , Melena/etiologia , Neoplasias de Plasmócitos/complicações , Hipergamaglobulinemia/etiologia , Mieloma Múltiplo/complicações , Cuidados Paliativos , Eletroforese das Proteínas Sanguíneas , gama-Globulinas/análise , Dexametasona/uso terapêutico , Mielografia , Radiografia , Fármacos Cardiovasculares/uso terapêutico , Microglobulina beta-2/análise , Corticosteroides/uso terapêutico , Evolução Fatal , Hipergamaglobulinemia/diagnóstico , Obstrução Intestinal/etiologia , Perfuração Intestinal/etiologia , Intestinos/irrigação sanguínea , Isquemia/cirurgia , Isquemia/complicações , Mieloma Múltiplo/tratamento farmacológico , Mieloma Múltiplo/sangue , Mieloma Múltiplo/diagnóstico por imagemRESUMO
Background: One of the devastating consequences of monoclonal gammopathies is the development of end-stage kidney disease, which can be prevented with an early diagnosis. Renal involvement can be secondary to saturation of paraproteins with intratubular precipitation or the glomerular deposition of paraproteins with secondary inflammation and destruction. These conditions can also be associated with monoclonal gammopathies that do not meet hematological treatment criteria, called monoclonal gammopathies of renal significance (MGRS). Aim: To report a retrospective analysis of patients who underwent a renal biopsy and whose final diagnosis was a form of monoclonal gammopathy. Material and Methods: We reviewed the clinical and laboratory features and response to treatment of 22 patients aged 63 ± 12 years (55% women) with a pathological diagnosis of a nephropathy associated with paraproteinemia. Results: The most common hematological diagnosis was amyloidosis in 50% of patients, followed by cast nephropathy. The predominant clinical presentations were proteinuria (without nephrotic syndrome) and nephritic syndrome. Classic criteria such as erythrocyte sedimentation rate > 100 mm/h and protein-albumin gap were unusual. Serum light chain quantification was the test with the best yield to detect paraproteins. Conclusions: In this group of patients, light chains tend to affect the kidney more commonly than heavy chains. The prognosis of multiple myeloma is much worse than MGRS.
Assuntos
Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Paraproteinemias , Nefropatias , Paraproteinemias/complicações , Paraproteinemias/diagnóstico , Paraproteínas , Estudos Retrospectivos , Rim , Nefropatias/diagnóstico , Nefropatias/etiologiaRESUMO
ABSTRACT Background: Immunoglobulin light chain (AL) amyloidosis is a rare and underdiagnosed entity. Aim: To characterize patients with AL amyloidosis in Chilean public health centers. Material and Methods: We conducted a retrospective, multicenter study. Public centers of the Chilean Monoclonal Gammopathies Cooperative Group were asked to search for patients with AL amyloidosis in their databases. Epidemiological, clinical and laboratory characteristics were evaluated. Results: Forty-two patients aged 22 to 84 years were found. Twenty four percent had localized AL amyloidosis; 64% had a lambda light chain clone; 47% were associated with multiple myeloma and 9% with non-Hodgkin lymphoma. The most commonly involved organ was the kidney (76%). Serum free light chains were measured in 31% and an echocardiogram was performed in 74% of patients. Seventeen percent of patients received only palliative care, 17% were treated with bortezomib, 21% with thalidomide, and 40% with melphalan. No patient was transplanted. The mean overall survival (OS) of the group was 19 months. The 5-year OS was 28%. Conclusions: It is important to obtain these realistic, national data to initiate strategies to improve early diagnosis and proper management of this disease.
La amiloidosis AL es una entidad poco frecuente y subdiagnosticada. Mientras todo el mundo discute sobre las nuevas herramientas diagnósticas y terapéuticas, en Chile y en América Latina en general, estamos lejos de esa realidad. El objetivo del presente estudio fue caracterizar a los pacientes con amiloidosis AL en centros del sistema público de nuestro país. Se realizó un estudio retrospectivo, multicéntrico, descriptivo. Los centros públicos del grupo cooperativo hematológico chileno buscaron en sus bases de datos pacientes diagnosticados con amiloidosis AL. Se evaluaron las características epidemiológicas, clínicas y de laboratorio. La edad media fue de 65 años. A 24% de los pacientes se les diagnosticó amiloidosis AL localizada; 64% tuvo paraproteína con cadena ligera lambda; 47% se asoció con mieloma múltiple y 9% con linfoma no Hodgkin. El órgano afectado con mayor frecuencia fue el riñón (76%). Las cadenas ligeras libres de suero se realizaron en 31% y ecocardiograma en 74%. El 17% recibió solo cuidados paliativos, 17% recibió tratamiento con bortezomib, 21% con talidomida y 40% con melfalán. Ningún paciente fue trasplantado. La media de sobrevida global (SG) del grupo fue de 19 meses. La SG a 5 años fue de 28%. Es importante reportar estos resultados nacionales para iniciar estrategias que mejoren tanto el diagnóstico temprano como el tratamiento de esta patología. Por lo tanto, mejorar la sospecha diagnóstica es crucial.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Adulto Jovem , Setor Público/estatística & dados numéricos , Amiloidose de Cadeia Leve de Imunoglobulina/epidemiologia , Serviços de Saúde/estatística & dados numéricos , Fatores de Tempo , Eletroforese das Proteínas Sanguíneas , Chile/epidemiologia , Estudos Retrospectivos , Cadeias lambda de Imunoglobulina , Estimativa de Kaplan-Meier , Amiloidose de Cadeia Leve de Imunoglobulina/fisiopatologiaRESUMO
Hematological neoplasms are tumors of cells in different states of maturation and differentiation. Since monoclonal gammopathies (MG) refer to B mature lymphocyte neoplasms, lymphogenesis should be well known. We must keep in mind that the last stage of maturation of these lymphocytes is the plasma cell. This is how a MG could appear in the context of a plasma cell neoplasm, such as multiple myeloma or amyloidosis, but also in relation to a lymphoma. A monoclonal peak is produced by mature B lymphocytes or plasma cells that secrete a monoclonal protein (Immunoglobulin), and represents a MG. But it must be emphasized that, in the correct clinical context, a hypogammaglobulinemia can represent a MG as well. Another important point is the understanding and interpretation of requested tests, such as protein electrophoresis (PEP), immunofixation (IFx) or serum free light chains (sFLC). The current MG screening panel includes these three studies (PEF, IFx, sFLC), although a simpler panel measuring PEF and sFLC has also been proposed, but not yet formally validated. Therefore, screening done only with PEP is insufficient.
Assuntos
Humanos , Paraproteinemias/sangue , Paraproteínas/análise , Neoplasias de Plasmócitos/sangue , Paraproteinemias/diagnóstico , Eletroforese das Proteínas Sanguíneas/métodos , Linfócitos B/metabolismo , Neoplasias de Plasmócitos/diagnósticoRESUMO
Abstract: Necrobiotic xanthogranuloma is a rare chronic condition, belonging to the group C non-Langerhans cell histiocytoses, which is relevant due to the possibility of extracutaneous involvement and association with systemic diseases, particularly hematologic malignancies. The case reported here was only diagnosed after nine years of evolution and was associated with plasma cell dyscrasia. After treatment with cyclophosphamide, dexamethasone, and thalidomide, there was a reduction of cutaneous lesions and serum levels of monoclonal protein.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Xantogranuloma Necrobiótico/tratamento farmacológico , Mieloma Múltiplo Latente/tratamento farmacológico , Talidomida/uso terapêutico , Dexametasona/uso terapêutico , Resultado do Tratamento , Ciclofosfamida/uso terapêutico , Xantogranuloma Necrobiótico/complicações , Xantogranuloma Necrobiótico/patologia , Mieloma Múltiplo Latente/complicações , Mieloma Múltiplo Latente/patologia , Imunossupressores/uso terapêuticoAssuntos
Autoanticorpos/sangue , Membrana Basal Glomerular , Imunoglobulina G/sangue , Cadeias lambda de Imunoglobulina/sangue , Nefropatias , Paraproteinemias , Idoso , Feminino , Membrana Basal Glomerular/metabolismo , Membrana Basal Glomerular/patologia , Humanos , Nefropatias/sangue , Nefropatias/diagnóstico , Nefropatias/patologia , Nefropatias/terapia , Paraproteinemias/sangue , Paraproteinemias/diagnóstico , Paraproteinemias/patologia , Paraproteinemias/terapiaRESUMO
Background: Primary plasma cell leukemia (pPCL) is uncommon, aggressive and has a different biology than multiple myeloma (MM). Aim: To report the features of patients with pPCL. Material and Methods: Review of databases of the Hematology Department and the Hematology laboratory. Results: Of 178 patients with monoclonal gammopathies, five (2.8%) patients aged 33 to 64 years (three females) had a pPCL. The mean hemoglobin was 7.3 g/dL, the mean white blood cell count was 52,500/mm3, with 58% plasma cells, and the mean platelet count was 83,600/mm3. The mean bone marrow infiltration was 89%, LDH was 2,003 IU/L, serum calcium was 13 mg/dL, and creatinine 1.5 mg/dL. Two patients had bone lesions. Three were IgG, one IgA lambda and one lambda light chain. CD20 was positive in one, CD56 was negative in all and CD117 was negative in 3 cases. By conventional cytogenetic analysis, two had a complex karyotype. By Fluorescence in situ Hybridization, one was positive for TP53 and another for t (11; 14). One patient did not receive any treatment, three patients received VTD PACE and one CTD. None underwent transplant. Three patients are alive. The mean survival was 14 months. Conclusions: These patients with pPCL were younger and had a more aggressive clinical outcome than in multiple myeloma.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Leucemia Plasmocitária/genética , Leucemia Plasmocitária/epidemiologia , Paraproteinemias/genética , Paraproteinemias/patologia , Paraproteinemias/epidemiologia , Contagem de Células Sanguíneas , Leucemia Plasmocitária/patologia , Leucemia Plasmocitária/terapia , Análise de Sobrevida , Chile/epidemiologia , Cálcio/sangue , Estudos Retrospectivos , Resultado do Tratamento , Hibridização in Situ Fluorescente , Creatinina/sangue , Análise Citogenética , Citometria de Fluxo/métodosRESUMO
A síndrome POEMS é um distúrbio multissistêmico. Sua patogênese não está totalmente estabelecida, mas sabe-se que tem relação com fator de crescimento vascular endotelial, interleucinas e fator de necrose tumoral alfa. A idade média de incidência é 50 anos, com maior prevalência em homens. Neuropatia periférica e gamopatia monoclonal estão presentes em todos os pacientes e são consideradas critérios maiores; quando associadas a pelo menos um critério menor, estabelecem diagnóstico da síndrome. As opções de tratamento são radioterapia, corticosteroides e quimioterapia, além de transplante autólogo de células-tronco hematopoiéticas. (AU)
POEMS syndrome is a multisystem disorder. Its pathogenesis isn't fully established, but it is known to be related to endothelial vascular growth factor, interleukins, and tumoral necrosis factor alpha (TNF-α). The mean age at incidence is 50 years, with a higher prevalence in men. Peripheral neuropathy and monoclonal gammopathy are present in all patients, and are considered major criteria; when associated with at least one minor criterium, they establish the diagnosis of the syndrome. Treatment options are radiotherapy, corticosteroids, chemotherapy, as well as autologous hematopoietic stem cell transplantation. (AU)
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Síndrome POEMS/diagnóstico , Osteosclerose/etiologia , Paraproteinemias/etiologia , Polineuropatias/diagnóstico , Esplenomegalia/diagnóstico por imagem , Doenças da Glândula Tireoide/diagnóstico por imagem , Dexametasona/uso terapêutico , Hiperplasia do Linfonodo Gigante , Síndrome POEMS/complicações , Síndrome POEMS/tratamento farmacológico , Corticosteroides/uso terapêutico , Vasculite Leucocitoclástica Cutânea/diagnóstico , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica , Inibidores da Angiogênese/uso terapêutico , Ciclofosfamida/uso terapêutico , Diagnóstico Diferencial , Eletromiografia , Imunossupressores/uso terapêutico , Antibióticos Antineoplásicos/uso terapêutico , Mieloma Múltiplo , Antineoplásicos/uso terapêuticoRESUMO
Background: International guidelines suggest a screening panel for monoclonal gammopathies that contains serum protein electrophoresis (SPE), free light chain (FLC) measurements and immunofixation. This combination provides the possibility of a timely accurate diagnosis. Aim: To evaluate the sensibility of a simple screening panel (SPE + FLC). Material and Methods: We analyzed 191 consecutive serum samples of patients with a suspected monoclonal gammopathy (MG). Results: Seventy five patients were diagnosed with MG. The sensitivity and specificity of the combination of SPE + FLC for the diagnosis of monoclonal gammopathy were 95% (95% confidence intervals 89-99) and 99% (95% confidence intervals 96-100), respectively. Conclusions: We were able to validate the international recommendations on the diagnostic accuracy of this simple combination of two tests in serum for monoclonal gammopathy.
Assuntos
Humanos , Paraproteinemias/diagnóstico , Eletroforese das Proteínas Sanguíneas/métodos , Cadeias Leves de Imunoglobulina/imunologia , Biomarcadores/sangue , Estudos Prospectivos , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
Monoclonal gammopathy of renal significance (MGRS) is a new nosological group of entities (meta-entity) defined in 2012, whose pathogenesis depends on monoclonal immunoglobulins (Ig) secreted by low-grade lymphoproliferative disorders, which belong to M-protein-related diseases. Renal damage is the result of monoclonal Ig deposit or its activity as autoantibodies, which can compromise any nephronal area. MGRS does not include kidney diseases produced by high-grade lymphoproliferative disorders as well as those whose pathogenesis are independent of monoclonal Ig (such as drug toxicity or metabolic disorders). The importance of this hemato-nephrological meta-entity is based on two aspects: First, it is associated with increased morbidity and mortality, including recurrence in post-renal transplant or its appearance as "de novo" after it; and second, it usually improves after treating the plasmocyte or lymphocyte clone responsible, leading to the elimination of M-protein. Between low-grade lymphoproliferative disorders, monoclonal gammopathy of undetermined significance (MGUS) requires special consideration for two reasons: First, it is the disorder most related to MGRS; second, when MGUS progresses to MGRS, effective treatment against toxic underline clone should be performed taking into account the nephrological perspective.
Assuntos
Cadeias Leves de Imunoglobulina/sangue , Nefropatias/sangue , Nefropatias/patologia , Gamopatia Monoclonal de Significância Indeterminada/sangue , Gamopatia Monoclonal de Significância Indeterminada/patologia , Humanos , Nefropatias/etiologia , Gamopatia Monoclonal de Significância Indeterminada/complicaçõesRESUMO
Light chain-associated kidney compromise is frequent in patients with monoclonal gammopathies; it affects the glomeruli or the tubules, and its most common cause is multiple myeloma. It may develop after a kidney transplant due to recurrence of a preexisting multiple myeloma or it can be a de novo disease manifesting as graft dysfunction and proteinuria. A kidney biopsy is always necessary to confirm the diagnosis.We describe three cases of kidney graft dysfunction due to multiple myeloma in patients without presence of the disease before the transplant.
Assuntos
Transplante de Rim/efeitos adversos , Mieloma Múltiplo/etiologia , Disfunção Primária do Enxerto/etiologia , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biópsia , Transplante de Medula Óssea , Terapia Combinada , Evolução Fatal , Humanos , Cadeias Leves de Imunoglobulina/análise , Imunossupressores/efeitos adversos , Falência Renal Crônica/cirurgia , Masculino , Pessoa de Meia-Idade , Mieloma Múltiplo/diagnóstico , Mieloma Múltiplo/terapia , Proteínas do Mieloma/análise , Proteinúria/etiologiaRESUMO
RESUMEN La enfermedad renal asociada a cadenas ligeras es frecuente en el contexto de las gammapatías monoclonales, afecta los glomérulos o los túbulos renales, y su causa más común es el mieloma múltiple. Puede desarrollarse después de un trasplante renal por recurrencia de un mieloma múltiple ya existente, o puede ser de diagnóstico nuevo y presentarse con deterioro de la función renal y proteinuria. Siempre se requiere una biopsia renal para confirmar el diagnóstico.
ABSTRACT Light chain-associated kidney compromise is frequent in patients with monoclonal gammopathies; it affects the glomeruli or the tubules, and its most common cause is multiple myeloma. It may develop after a kidney transplant due to recurrence of a preexisting multiple myeloma or it can be a de novo disease manifesting as graft dysfunction and proteinuria. A kidney biopsy is always necessary to confirm the diagnosis.
Assuntos
Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Transplante de Rim/efeitos adversos , Disfunção Primária do Enxerto/etiologia , Mieloma Múltiplo/etiologia , Proteinúria/etiologia , Biópsia , Proteínas do Mieloma/análise , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Transplante de Medula Óssea , Cadeias Leves de Imunoglobulina/análise , Evolução Fatal , Terapia Combinada , Imunossupressores/efeitos adversos , Falência Renal Crônica/cirurgia , Mieloma Múltiplo/diagnóstico , Mieloma Múltiplo/terapiaRESUMO
Abstract Scleromyxedema is a rare chronic cutaneous mucinosis of unknown etiology. It is characterized by papular eruption and scleroderma with microscopic evidence of mucin deposition, fibroblast proliferation, and fibrosis. Most patients with scleromyxedema have monoclonal gammopathy and systemic manifestations resulting in significant morbidity and mortality. Several types of treatment have been reported with partial or inconsistent responses. Despite showing unpredictable evolution, systemic consequences of scleromyxedema and treatment side effects may result in death. We describe a rare case of a patient with scleromyxedema without paraproteinemia with systemic involvement that evolved to death despite treatment with cyclophosphamide.