Desde la pérdida de la fuerza hasta el compromiso sistémico: serie de casos del síndrome POEMS / From limb weakness to a systemic involvement: Poems syndrome case two report and review of the literature

El síndrome POEMS es un trastorno paraneoplásico raro y poco frecuente, que se presenta principalmente en la sexta década de la vida, caracterizado por el compromiso multisistémico con predominio de neuropatía desmielinizante. Abarca diversas y heterogéneas manifestaciones clínicas y su diagnóstico requiere un alto índice de sospecha. Se presentan dos casos de pacientes que consultaron por cuadros poco frecuentes en los que la pérdida de la fuerza orientó al acercamiento de una afectación multisistémica que concluyó con el diagnóstico de esta enfermedad(AU)

POEMS syndrome is a rare and infrequent paraneoplastic syndrome, which occurs mainly in the sixth decade of life, characterized by multisystem involvement with a predominance of demyelinating neuropathy, which encompasses diverse and heterogeneous clinical manifestations and whose diagnosis requires a high index of suspicion. We present two cases of patients who consulted due to unusual symptoms and whose loss of strength led to an approach due to multisystem involvement that concluded with the diagnosis of this disease(AU)

Síndrome POEMS: desafios no diagnóstico de um caso atípico / POEMS syndrome: challenges in the diagnosis of an atypical case

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

Macroglobulinemia de Waldenström: primer caso con confirmación molecular en Honduras / Waldenström Macroglobulinemia: first case with molecular confirmation in Honduras

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)

Patologías cutáneas asociadas a gammapatías monoclonales: ¿qué sabemos hasta ahora? / Dermatological manifestations of monoclonal gammopathies

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.

Diagnostic challenges in systemic amyloidosis: a case report with clinical and laboratorial pitfalls

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.

Managing patients with multiple myeloma during the COVID-19 pandemic: recommendations from an expert panel - ABHH monoclonal gammopathies committe

ABSTRACT Since the World has been facing the COVID-19 pandemic, special attention has been taken concerning cancer patients; related to their immunosuppression status, adding risk for more aggressive COVID-19 and mortality, but also concerns about the access and the quality of care in cancer therapy. The COVID-19 pandemic impacts the number of infected, its related mortality, as well as the care of cancer patients. Multiple myeloma patients are a particular group with several important aspects to be considered during pandemic times. In essence, they are immunosuppressed in different intensities during their treatment. Most of them are elderly and all of them require long-term therapy, with prolonged contact with the health care system, possibly including a stem cell transplant during the treatment. A panel of experts in multiple myeloma and infectious diseases discusses pieces of evidence and the lack of the same in the scenario of COVID-19 in myeloma patients, while also exposing what is expected for the next phases of the COVID-19 pandemic.

Nefropatías secundarias a paraproteína: perfil clínico a partir de hallazgos histológicos

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.

Gammapatías monoclonales de significado clínico en reumatología / Monoclonal gammopathies with clinical significance in rheumatology

Las gammapatías monoclonales son un grupo amplio de enfermedades de células hematológicas con expresión clínica variable, con afectación sistémica o localizada. Muchos de estos trastornos simulan enfermedades reumáticas, y pueden presentarse previa- o posteriormente a la enfermedad de base, por lo cual dificultan su diagnóstico. El propósito de este estudio es comunicar los casos de cinco pacientes con manifestaciones clínicas de enfermedades reumáticas y diagnóstico final de enfermedades oncohematológicas. Se realizó un estudio descriptivo transversal mediante el análisis de historias clínicas de pacientes evaluados en el Servicio de Reumatología del Hospital José María Cullen de Santa Fe entre marzo del 2010 y junio del 2019. Se incluyó a cinco pacientes que fueron estudiados por sospecha de enfermedad reumatológica hasta llegar al diagnóstico final de gammapatía monoclonal. Cuatro pacientes presentaron mieloma múltiple manifestado como síndrome de Schnitzler; xantogranuloma del adulto y amiloidosis; aplastamientos vertebrales múltiples; falla renal aguda, respectivamente. El quinto paciente se presentó simulando una vasculitis sistémica con afectación multiorgánica y diagnóstico final de linfoma intravascular. Los pacientes fueron derivados al Servicio de Oncología y Hematología para su atención. A partir de la serie de casos analizados, se concluye que las manifestaciones reumáticas de las enfermedades oncohematológicas se deben tener presentes en el accionar diario para evitar la demora diagnóstica y los tratamientos innecesarios(AU)

Monoclonal gammapathies are a broad group of diseases from hematopoietic cells with variable clinical features and systemic or limited involvement. These entities could begin as a rheumatic disease, even previously to the diagnosis of MG. To describe five patients with rheumatic manifestations that lately were diagnosed as monoclonal gammapathies. We describe the more relevant features of five patients assisted in our rheumatology center. Four patients were diagnosed with multiple myeloma that begins as: 1) Schnitzler's syndrome, 2) Adult-onset xanthogranuloma and amyloidosis, 3) multiple vertebral fracture, 4) acute kidney failure. The 5th patient has a vasculitis-like syndrome due to an intravascular lymphoma. The rheumatic-like syndromes are infrequent but we should take into account this diagnosis in our clinical practice for rapid diagnostic and correct treatment(AU)

Trasplante de progenitores hematopoyéticos autólogo en gammapatías monoclonales: primeros resultados del Hospital "Hermanos Ameijeiras" / Autologous stem cell transplantation in monoclonal gammopathies: first results from the "Hermanos Ameijeiras" Hospital

Introducción: Los avances en el manejo del mieloma múltiple (MM) durante los últimos años incluyen la incorporación del trasplante de progenitores hematopoyéticos autólogo (TPHa) a la estrategia de tratamiento de estos pacientes. Objetivo: Dar a conocer los primeros resultados en el hospital Hermanos Ameijeiras (HHA) con la aplicación del TPHa en pacientes con gammapatías monoclonales (GM), empleando las altas dosis de melfalán (AD-Mel) como tratamiento acondicionante (TA) y su impacto en la sobrevida global (SG). Métodos: Se hizo un estudio retrospectivo de todos los pacientes con GM sometidos a TPHa en el Servicio de Hematología del HHA en el período comprendido entre 2009 y 2018. La muestra final comprendió 14 casos. Resultados: La edad promedio fue de 53,5 años; la mayoría tenía como diagnóstico MM (85,7 por ciento) y todos ellos debutaron en estadio III de Durie-Salmon; como TA el 64,2 por ciento recibió AD-mel, en dosis de 200 mg/m2. La recuperación de las cifras de neutrófilos y plaquetas ocurrieron como promedio a los 11,4 y 12 días, respectivamente. La mortalidad relacionada con el trasplante (MRT) al día +30 fue del 7,1 por ciento. La probabilidad de SG a los 2 años fue superior al 90 por ciento y a los 5 años del 68 por ciento. Conclusiones: Se comprobó que la realización del TPHa con el empleo de AD-Mel como TA en pacientes con GM es un proceder realizable en nuestro país con una MRT relativamente baja. Se logró demostrar que la inclusión del TPH en el tratamiento mejora considerablemente las expectativas de sobrevida de estos pacientes(AU)

Introduction: The recent advances in the management of multiple myeloma (MM) during the last years have included the autologous hematopoietic stem cell transplantation (auto-HSCT) to the treatment strategy of these patients. Objective: To present the first results in the Hermanos Ameijeiras hospital (HAH) with the application of auto-HSCT in patients with monoclonal gammopathies (MG) using high doses of melphalan (HD-Mel) as conditioning regimen (CR) and its impacton overall survival (OS). Methods: A retrospective study of all patients with MG who underwent auto-HSCT in the Hematology Service of the HAH in the period between 2009 and 2018 wasmade. The final sample comprised 14 cases. Results: The average age was 53.5 years; the majority had diagnosis of MM (85.7percent) and all of them were diagnosed in stage III of Durie-Salmon; as CR 64.2 percent received HD-mel, at 200 mg/m2. The recovery of neutrophil and platelet counts occurred on average at 11.4 and 12 days respectively. Transplant related mortality (TRM) at day +30 was 7.1 percent. The probability of OS at 2 years was higher than 90 percent and at 5 years of 68 percent. Conclusions: It was verified that the performance of auto-HSCT with the use of HD-Mel as CR in patients with MG is a feasible procedure in our country with a relatively low TRM. It was possible to demonstrate that the inclusion of auto-HSCT in the treatment considerably improves the survival expectations of these patients(AU)

Importancia de las alteraciones genéticas del mieloma múltiple / Importance of the genetic alterations of multiple myeloma

Introducción: El mieloma múltiple (MM) es una enfermedad que va precedida por una fase previa conocida como gammapatía monoclonal de significado incierto (GMSI); en esta última existen varias anormalidades citogenéticas, que permiten la progresión a MM, entre estas encontramos reordenamientos primarios del gen de la cadena pesada de la inmunoglobina (IGH), además de células hiperdiploides. Desarrollo: Las alteraciones cromosómicas en el MM se pueden clasificar en dos grupos principales: las que involucran las translocaciones del locus IGH ubicado en el cromosoma 14q32 y cuyos principales reordenamientos se dan entre las regiones cromosómicas 11q13, 16q23, 4p16.3, 6p21 y, un segundo grupo caracterizado por los desequilibrios genómicos. Los pacientes con translocaciones de la IGH, muestran un pronóstico diferente en dependencia del tipo de reordenamiento cromosómico. La t(4;14)(p16;q32) y t(14;16)(q32;q23) se asocian a un mal pronóstico, mientras que los pacientes con t(11;14) (q13;q32) tiene un buen pronóstico de la enfermedad en ausencia de otras anormalidades genéticas. En el grupo con desequilibrio genómico se encuentran deleciones, amplificaciones, y células con números anormales de cromosomas (hiperdiploidas y no hiperdiploides); casi siempre asociadas a mal pronóstico ya que muchas de estas alteraciones involucran perdida de material genómico relacionado con el control de ciclo celular y progresión de la enfermedad, como son las deleciones de los cromosomas 1,13 y 17. Los pacientes con trisomías de los cromosomas impares 1, 3, 5, 7, 9, 11, 15, 19,21 suelen tener un mejor pronóstico y una tasa mayor de sobrevivencia(AU)

Introduction: Multiple myeloma (MM) is a disease that is preceded by a previous phase known as monoclonal gammopathy of uncertain significance (MGUS); in this latter there are several cytogenetic abnormalities, which allow the progression to MM, among these we find primary rearrangements of the heavy chain gene of the immunoglobin (IGH), in addition to hyperdiploid cells. Development: Chromosomal alterations in MM can be classified into two main groups, those involving the translocations of the IGH locus located on chromosome 14q32 and whose main rearrangements occur between the chromosomal regions 11q13, 16q23, 4p16.3, 6p21, and a second group which is characterized by genomic imbalances. Patients with translocations of the IGH, show a different prognosis depending on the type of chromosomal rearrangement, the t(4; 14)(p16; q32) and t(14; 16)(q32; q23) are associated with a poor prognosis while patients with t(11; 14)(q13; q32) have a good prognosis of the disease in the absence of other genetic abnormalities. Within the genomic imbalances we find deletions, amplifications, and cells with abnormal numbers of chromosomes (hyperdiploids and not hyperdiploid), these almost always associated with poor prognosis since many of these alterations involve loss of genomic material related to cell cycle control and progression of the disease, such as deletions of chromosomes 1,13 and 17. Patients with trisomies of odd chromosomes 1, 3, 5, 7, 9, 11, 15, 19,21 usually have a better prognosis and a higher survival rate(AU)

Paraproteínas: claridad en la nebulosa / Paraproteins: a review

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.

Henoch-Schönlein purpura nephritis associated with monoclonal gammopathy of renal significance: a case report

Monoclonal gammopathy of renal significance (MGRS) can present with different morphologic features and lead to kidney failure. The Henoch-Schönlein purpura nephritis (HSPN) that cannot be relieved by treatment with glucocorticoid and immunosuppressive agents suggests the presence of monoclonal gammopathy in adult patients. The present study reports on a single case of HSPN associated with IgA-κMGRS. The patient who suffered from recurrent skin purpura for 6 months and nephrotic syndrome for 2 months was admitted to our hospital. Bone marrow biopsy showed monoclonal gammopathy of undetermined significance. Kidney biopsy indicated a Henoch-Schönlein purpura nephritis (HSPN, ISKDC classified as type III) with positive staining with κ-light chain in the glomeruli and renal tubular epithelial cells. Furthermore, skin biopsy showed leukocytoclastic vasculitis and negative staining for Congo red and light chain. Given both the renal and cutaneous involvement, the patient was considered to have HSPN associated with IgA-κMGRS. The patient experienced an exacerbation in his purpura-like lesions and clinical status after treatment with glucocorticoid and immunosuppressive agents. Consequently, the patient was put on a regimen that included dexamethasone (20 mg on the 1st, 4th, 8th, and 11th days of each month, iv) and bortezomib (2.4 mg on the 1st, 4th, 8th, and 11th days of each month, iv). Eight weeks after treatment, he had complete resolution of his cutaneous purpura and his biochemical parameters improved. The latent presence of MGRS in cases of HSPN should be considered in adult patients. Increased cognizance and correct treatment options could improve patient outcomes.

Cadenas ligeras libres en suero en el diagnóstico de Gammapatías Monoclonales / Free light chains in serum in the diagnosis of Monoclonal Gammopathies

Las gammapatías monoclonales son un conjunto de enfermedades causadas por la proliferación clonal de células plasmáticas que secretan un mismo tipo de inmunoglobulina, conocido como inmunoglobulina clonal. El pronóstico de estas enfermedades hematológicas depende del diagnóstico temprano, en el Mieloma Múltiple se asocia con una enfermedad menos grave. Las pruebas de laboratorio desempeñan un papel importante en las distintas etapas del manejo clínico del paciente con gammapatía monoclonal. Estas incluyen pruebas tradicionales como la electroforesis de proteínas en suero, la inmunofijación, y actualmente se adiciona la determinación de cadenas ligeras libres en suero, una prueba complementaria importante porque permite evidenciar la presencia de gammapatías monoclonales de forma temprana por su alta sensibilidad, así como cuantificar las cadenas ligeras libres kappa/lambda y determinar la monoclonalidad a través del respectivo cociente, parámetro que desde el 2014 está integrado en los criterios diagnósticos de mieloma según la International Myeloma Working Group.Como metodología se realizó la búsqueda de material bibliográfico: se definieron las palabras clave utilizando los descriptores DeCS y MeSH, se inició la búsqueda de información en las bases de datos bibliográficas PubMed, ScienceDirect y se ejecutó una búsqueda en internet con buscador "google académico" con los mismos términos. Se seleccionaron aquellos artículos y páginas de internet que contaran con información de interés, que cumplieran los requisitos para incluirse dentro del artículo de revisión, se almacenaron en una base de datos y finalmente se realizó la lectura crítica de la información.

Monoclonal gammopathies are a group of diseases caused by the clonal proliferation of plasma cells that secrete the same type of immunoglobulin, known as clonal immunoglobulin. The prognosis of these hematological diseases depends on the early diagnosis, in Multiple Myeloma is associated with a less serious disease. Laboratory tests play an important role in the different stages of clinical management of patients with Monoclonal gammopathies, including traditional tests such as serum protein electrophoresis, immunofixation, and the determination of free light chains in serum it is considered an important complementary test since it allows initially to show the presence of Monoclonal gammopathies in an early way due to its high sensitivity, likewise it allows to quantify the kappa / lambda free light chains and to determine the monoclonality through the respective quotient, this is a parameter that since 2014 is integrated into the myeloma diagnostic criteria according to the International Myeloma Working Group.As a methodology, the search of bibliographic material was carried out: the keywords were defined using the DeCS and MeSH descriptors, the search for information in the PubMed, ScienceDirect bibliographic databases was started and an internet search was carried out with the "google academic" search engine with the same terms. Those articles and internet pages that had information of interest, that met the requirements to be included in the review article, were stored in a database and finally the critical reading of the information was selected

Leucemia de células plasmáticas primaria: experiencia en un hospital público chileno / Primary plasma cell leukemia: report of five cases

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.

Síndrome POEMS: um diagnóstico desafiador / POEMS Syndrome: a challenging diagnosis

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)

Síndrome de POEMS, el desafío diagnóstico de un caso infrecuente / POEMS syndrome, the diagnostic challenge of an infrequent case / Síndrome de POEMS, o desafio diagnóstico de um caso infrequente

Se reporta el caso de un hombre de 45 años con síntomas y signos consistentes con el Sindrome de POEMS (del inglés: polineuropatía, organomegalia, endocrinopatía, gammapatía monoclonal y cambios dérmicos), un raro desorden paraneoplásico. El mismo contaba con antecedentes de tabaquismo, hipotiroidismo y últimamente había perdido 20 kg de peso. Se destaca que una historia clínica y revisión detallada seguida de estudios de laboratorio, radiología y biopsia de médula ósea, entre otros, son herramientas necesarias para reconocer los componentes de este síndrome y no demorar el diagnóstico. El paciente presentó 2 criterios obligatorios (gammapatía monoclonal y neuropatia periférica sensitivo-motora), un criterio mayor (lesión ósea) y varios criterios menores (desórdenes endocrinos, manifestaciones cutáneas, organomegalia). Actualmente se encuentra bajo supervisión hematológica y continúa su seguimiento neurológico, lo que muestra una buena respuesta a la terapia específica. Las enfermedades raras como este síndrome resultan un desafío diagnóstico para los profesionales de la salud.

The case of a 45 - year- old- man whose symptoms and signs were consistent with POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes), a rare paraneoplastic disorder, has been reported. He had a previous history of smoking, hypothyroidism and a 20 kg weight loss. It was emphasized that a detailed clinical history and examination followed by laboratory and radiological studies and bone marrow biopsy, among others tests, were necessary in order to recognise the components of this syndrome and not to delay the time of diagnosis. This patient had two mandatory criteria (monoclonal gammopathy and sensorimotor polyneuropathy), one major criterion (bone lesion) and several minor criteria (endocrine disorders, cutaneous manifestations, organomegaly). He is currently under the supervision of the doctors of the hematology department and continues neurological follow-up, having a good response to the specific therapy. Rare diseases like this syndrome are a diagnostic challenge for health professionals.

Informa-se o caso de um homem de 45 anos com sintomas e sinais compatíveis com a Síndrome de POEMS (do inglês: polineuropatia, organomegalia, endocrinopatia, gamopatia monoclonal e alterações cutâneas), um distúrbio paraneoplásico raro. O homem tinha antecedentes de tabagismo, hipotiroidismo e ultimamente tinha perdido 20 kg de peso. Enfatizamos que um prontuario médico e exame detalhado, seguido de estudos de laboratório e radiológicos, e uma biópsia de medula óssea, dentre outros, são ferramentas necessárias para reconhecer os componentes desta síndrome e não demorar o tempo de diagnóstico. Nosso paciente apresentou dois critérios obrigatórios (gamopatia monoclonal e neuropatia periférica sensório-motora), um critério maior (lesão óssea) e vários critérios menores (anormalidades endócrinas, alterações cutâneas, organomegalia). Encontra-se atualmente sob supervisão hematológica e continua seu seguimento neurológico, mostrando uma resposta boa à tera,pia concreta. Doenças raras como essa síndrome são um desafio diagnóstico para os profissionais da saúde.