Monoclonal gammopathy-associated peripheral neuropathies: Uncovering pearls and challenges.

Monoclonal gammopathy-related peripheral neuropathies encompass a spectrum of clinical presentations in which the monoclonal protein directly damages the tissues, including the peripheral nervous system. Given the prevalence of both peripheral neuropathy and monoclonal gammopathy in the general population, these conditions may overlap in clinical practice, posing a challenge for clinicians in determining causality. Therefore, a comprehensive understanding of primary clinical syndromes and their neurophysiological patterns is of great importance for accurate differential diagnoses and effective treatment strategies. In this article, we examine the main forms of monoclonal gammopathies that affect the peripheral nerve. We explore the clinical and electrophysiological aspects and their correlation with each syndrome's corresponding monoclonal protein type. This knowledge is essential for healthcare professionals to diagnose better and manage patients presenting with monoclonal gammopathy-related peripheral nervous system involvement.

Multiple Myeloma (Part 1) - Update on Epidemiology, Diagnostic Criteria, Systemic Treatment and Prognosis.

Multiple myeloma (MM) is a hematological malignancy characterized by unregulated and clonal proliferation of plasma cells in the bone marrow; these cells produce and secrete an anomalous monoclonal immunoglobulin, or a fragment of this, called M protein. The clinical manifestations of MM result from the proliferation of these plasmocytes, the excessive production of monoclonal immunoglobulin and the suppression of normal humoral immunity, leading to hypercalcemia, bone destruction, renal failure, suppression of hematopoiesis and humoral immunity, increasing the risk for the development of infections. The increase in life expectancy of the world population led to a concomitant increase in the prevalence of MM, a pathology that usually affects the elderly population. The aim of this review is to update the reader on epidemiology, diagnostic criteria, differential diagnosis with other monoclonal gammopathies, systemic treatment and prognosis of MM.

Multiple Myeloma (Part 1) - Update on Epidemiology, Diagnostic Criteria, Systemic Treatment and Prognosis / Mieloma múltiplo (Parte 1) - Atualização sobre epidemiología, critérios diagnósticos, tratamento sistêmico e prognóstico

Abstract Multiple myeloma (MM) is a hematological malignancy characterized by unregulated and clonal proliferation of plasma cells in the bone marrow; these cells produce and secrete an anomalous monoclonal immunoglobulin, or a fragment of this, called M protein. The clinical manifestations of MM result from the proliferation of these plasmocytes, the excessive production of monoclonal immunoglobulin and the suppression of normal humoral immunity, leading to hypercalcemia, bone destruction, renal failure, suppression of hematopoiesis and humoral immunity, increasing the risk for the development of infections. The increase in life expectancy of the world population led to a concomitant increase in the prevalence of MM, a pathology that usually affects the elderly population. The aim of this review is to update the reader on epidemiology, diagnostic criteria, differential diagnosis with other monoclonal gam-mopathies, systemic treatment and prognosis of MM.

Resumo O mieloma múltiplo (MM) constitui neoplasia maligna de origem hematológica caracterizada pela proliferação desregulada e clonal de plasmócitos na medula óssea; estas células produzem e secretam imunoglobulina monoclonal anômala, ou um fragmento desta, denominado proteína M. As manifestações clínicas do MM decorrem da proliferação destes plasmócitos, da produção excessiva de imunoglobulina monoclonal e da supressão da imunidade humoral normal, levando à hipercalcemia, destruição óssea, insuficiência renal, supressão da hematopoiese e da imunidade humoral,aumentandooriscoparaodesenvolvimento de infecções. O aumento na expectativa de vida da população mundial levou a concomitante incremento na prevalência do MM, patologia que habitualmente acomete a população idosa. O objetivo desta revisão é atualizar o leitor sobre a epidemiologia, critérios diagnósticos, diagnóstico diferencial com outras gamopatias monoclonais, tratamento sistêmico e prognóstico do MM.

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)

Multiple myeloma in Latin America.

INTRODUCTION: Multiple myeloma in Latin America (LATAM) face multiple challenges related to the lack of resources according to low- and middle-income in the region. AREAS COVERED: in this narrative review, several aspects of myeloma multiple epidemiology, diagnostic methods and risk stratification, medication commonly employed, and treatment results in LATAM are discussed. CONCLUSION: Patients usually are diagnosed in an advanced stage of the disease, and routine and risk evaluations are usually not ideal due to lack of access to different studies. Treatment is limited in many cases to the use of thalidomide and dexamethasone with and without cyclophosphamide. Access to autologous stem cell transplantation is far from ideal. Efforts must be made at the national health system level in our countries to offer our vast majority of MM patients a real chance to improve results in the diagnostic, risk stratification, and treatment. Currently, several groups in our region are working to make an impact in the field of MM.

Co-occurrence of myeloid neoplasm and plasma cell neoplasm.

Co-occurrence of myelodysplastic syndrome (MDS) and plasma cell neoplasm in patients with no history of chemo and/or radiotherapy is rarely reported. Herein, we report a case of a female in her seventieth decade of life who was referred to the hospital for pancytopenia. The patient was asymptomatic and was doing well overall. Serum protein electrophoresis was remarkable for a lambda-restricted monoclonal protein (IgG) estimated at 1.8g/dL. Immunoglobulin G serum level was also elevated, and serum Kappa/Lambda free light chain ratio was decreased. At that time, a bone marrow biopsy showed myelodysplastic syndrome with excess blasts-2 (MDS-EB2) and a monoclonal plasma cell proliferation. Some studies have shown that patients with plasma cell neoplasm could be associated with an increased risk of developing MDS compared to the general population. Based on reviewing the literature, to our knowledge, the pathological mechanism of the co-occurrence of both diseases is not yet clear.

Lambda light chain-induced monoclonal gammopathy of renal significance, manifesting with Fanconi Syndrome and osteomalacia.

BACKGROUND: Monoclonal gammopathy of renal significance (MGRS) encompasses a heterogeneous group of kidney diseases in which a monoclonal immunoglobulin secreted by a clone of B cells or plasma cells causes kidney damage without meeting the hematological criteria for malignancy. Among the various forms of involvement, MGRS can manifest as a proximal tubule disorder, such as Fanconi syndrome (FS), characterized by urinary loss of phosphate, glucose, amino acids, uric acid and bicarbonate. Few cases of MGRS have been described in the literature, manifesting as FS and monoclonal production of lambda light chains, almost all of which are secondary to the production of kappa light chains. CASE PRESENTATION: Here we report a clinical case of a 45-year-old Brazilian male, African descent, with proximal weakness of the lower limbs, whose initial assessment showed a urine summary with the presence of proteinuria and glycosuria without hyperglycemia, associated with mild worsening of renal function, hypouricemia, hypocalcemia and phosphaturia. Evolution was characterized by a MGRS manifesting as FS and osteomalacia. CONCLUSION: The diagnosis of MGRS is not always easy, it requires knowledge of the clinical characteristics, diagnostic criteria and prognosis of each case. Therefore, all possible efforts should be made for multidisciplinary diagnosis.

Adenopathy and extensive skin patch overlying plasmacytoma syndrome-the clue to early diagnosis of polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes: A case series and literature review.

Importance: Adenopathy and extensive skin patch overlying plasmacytoma syndrome is a paraneoplastic syndrome characterized by a cutaneous vascular patch overlying a plasmacytoma and systemic manifestations. It is thought to be an early stage of polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes syndrome, which is a rare, but potentially fatal multisystemic disease that is associated with plasma cell dyscrasia. Thus, a high index of suspicion is required to identify patients with adenopathy and extensive skin patch overlying plasmacytoma as they may present with early polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, which is curable if detected early. Objective: To report additional cases of adenopathy and extensive skin patch overlying plasmacytoma syndrome, describe dermatoscopic and histologic findings of the cutaneous patch and review all up to date literature on adenopathy and extensive skin patch overlying plasmacytoma syndrome. Design: Case series from a single tertiary care center. Participants: Here, we present the second case series of three patients with adenopathy and extensive skin patch overlying plasmacytoma syndrome who all meet the diagnostic criteria for polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. The diagnosis was suspected based on the presence of the violaceous cutaneous patch along with symptoms of systemic involvement (fatigue, weight loss, weakness). Dermoscopy revealing regular dilated parallel capillaries was suggestive of a benign/reactive vascular process. Histopathology in all three cases showed reactive vascular proliferation with a characteristic 90° branching. To date only 20 cases of adenopathy and extensive skin patch overlying plasmacytoma have been published, including ours. All patients presented with cutaneous lesions (violaceous patch and others) and most, at least 15/20, met the diagnostic criteria for polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. When clinical follow-up was reported, most patients had a favorable prognosis with partial or complete symptom resolution following treatment of the underlying plasmocytoma.

Co-occurrence of myeloid neoplasm and plasma cell neoplasm

ABSTRACT Co-occurrence of myelodysplastic syndrome (MDS) and plasma cell neoplasm in patients with no history of chemo and/or radiotherapy is rarely reported. Herein, we report a case of a female in her seventieth decade of life who was referred to the hospital for pancytopenia. The patient was asymptomatic and was doing well overall. Serum protein electrophoresis was remarkable for a lambda-restricted monoclonal protein (IgG) estimated at 1.8g/dL. Immunoglobulin G serum level was also elevated, and serum Kappa/Lambda free light chain ratio was decreased. At that time, a bone marrow biopsy showed myelodysplastic syndrome with excess blasts-2 (MDS-EB2) and a monoclonal plasma cell proliferation. Some studies have shown that patients with plasma cell neoplasm could be associated with an increased risk of developing MDS compared to the general population. Based on reviewing the literature, to our knowledge, the pathological mechanism of the co-occurrence of both diseases is not yet clear.

Tuberculosis presenting as proliferative glomerulonephritis with monoclonal immunoglobulin deposits / Tuberculosis que se presenta como glomerulonefritis proliferativa con depósitos de inmunoglobulina monoclonal

Abstract Proliferative glomerulonephritis with monoclonal immunoglobulin deposits is defined as membranoproliferative glomerulonephritis like injury with monotypic Ig deposits restricted to a single light chain isotype.Here we present a patient who presented with hypocomplementemia and nephrotic syndrome, who was initially diagnosed with proliferative glomerulonephritis with monoclonal immunoglobulin deposits. He developed disseminated tuberculosis after a brief course of immunosuppression. Successful treatment of tuberculosis resulted in the complete remission of glomerular disease and the disappearance of monoclonal protein. Hence, we believe he had Tuberculosis-related proliferative glomerulonephritis with monoclonal immunoglobulin deposits. Treatment strategies have not been structured due to the rarity of the condition and lack of randomized trials. However, expert opinion suggests clone-based therapy. proliferative glomerulonephritis with monoclonal immunoglobulin deposits with a benign course without clone-based therapy has been reported. Patients seldom respond to classic immunosuppressants. Even some cases experience slowly progressive disease under angiotensin converting enzyme inhibition alone. There are also cases secondary to viral infections. Our case and the particular "benign" cases lead us to an intriguing proposition that proliferative glomerulonephritis with monoclonal immunoglobulin deposits might not be a single disease. A subset of patients may be experiencing infection-related or post-infectious glomerulonephritis presenting as proliferative glomerulonephritis with monoclonal immunoglobulin deposits.

Resumen La lesión similar a la glomerulonefritis membranoproliferativa con depósitos de Ig monotípicos restringidos a un isotipo de cadena ligera única se conoce actualmente como glomerulonefritis proliferativa con depósitos de inmunoglobulina monoclonal. A continuación presentamos a un paciente que presentó hipocomplementemia y síndrome nefrótico, al que inicialmente se le diagnosticó glomerulonefritis proliferativa con depósitos de inmunoglobulina monoclonal. Desarrolló tuberculosis diseminada después de un breve curso de inmunosupresión. El tratamiento exitoso de la tuberculosis dio como resultado la remisión completa de la enfermedad glomerular y la desaparición de la proteína monoclonal. Por lo tanto, creemos que tenía glomerulonefritis proliferativa con depósitos de inmunoglobulina monoclonal relacionada con tuberculosis diseminada. Las estrategias de tratamiento no se han estructurado debido a la rareza de la afección y la falta de ensayos aleatorios. Sin embargo, la opinión de los expertos sugiere una terapia basada en clones. Se ha informado de glomerulonefritis proliferativa con depósitos de inmunoglobulina monoclonal con un curso benigno sin terapia basada en clones. Los pacientes rara vez responden a los inmunosupresores clásicos. Incluso algunos casos experimentan una enfermedad de progresión lenta solo con la inhibición de la enzima convertidora de angiotensina. También hay casos secundarios a infecciones virales. Nuestro caso y los casos "benignos" particulares nos llevan a la propuesta intrigante de que la glomerulonefritis proliferativa con depósitos de inmunoglobulina monoclonal podría no ser una sola enfermedad. Un subgrupo de pacientes puede estar experimentando glomerulonefritis postinfecciosa o relacionada con una infección que se presenta como glomerulonefritis proliferativa con depósitos de inmunoglobulina monoclonal.

Monoclonal gammopathy of undetermined significance clinic during the coronavirus disease-19 pandemic: caring for the vulnerable in an academic medical center

Background: Patients with monoclonal gammopathy of undetermined significance (MGUS) have clinical features including older age, presence of medical comorbidities, susceptibility to infections, and thrombotic tendencies which are relevant when assessing their risk during the coronavirus disease (COVID-19) pandemic. Objective: To study the vulnerability of patients with MGUS during the COVID-19 pandemic, we assessed the local management of MGUS patients and their clinical outcomes. Methods: Retrospective chart reviews were performed for all patients with MGUS seen at a university medical center clinic (2014-2020). Results: A total of 228 MGUS patients were included; 211 patients are alive, 7 patients died before the pandemic, and 10 patients died since the pandemic declaration. The mean age and the overall survival (OS) of the patients who died before versus during the pandemic were 83.0 versus 75.2 years, p = 0.4, and OS 40.6 versus 53.2 months, p = 0.3, respectively. One patient died of COVID-19. Nine patients had venous thromboembolisms (VTE), all of which occurred before the pandemic onset. Conclusions: There were no significant differences found in the mean age or OS of the MGUS patients who died before versus after the pandemic onset. An increase in VTE rates was not seen. Study results are limited by small patient numbers.

Monoclonal Gammopathy of Undetermined Significance Clinic during the Coronavirus Disease-19 Pandemic: Caring for the Vulnerable in an Academic Medical Center.

BACKGROUND: Patients with monoclonal gammopathy of undetermined significance (MGUS) have clinical features including older age, presence of medical comorbidities, susceptibility to infections, and thrombotic tendencies which are relevant when assessing their risk during the coronavirus disease (COVID-19) pandemic. OBJECTIVE: To study the vulnerability of patients with MGUS during the COVID-19 pandemic, we assessed the local management of MGUS patients and their clinical outcomes. METHODS: Retrospective chart reviews were performed for all patients with MGUS seen at a university medical center clinic (2014-2020). RESULTS: A total of 228 MGUS patients were included; 211 patients are alive, 7 patients died before the pandemic, and 10 patients died since the pandemic declaration. The mean age and the overall survival (OS) of the patients who died before versus during the pandemic were 83.0 versus 75.2 years, p = 0.4, and OS 40.6 versus 53.2 months, p = 0.3, respectively. One patient died of COVID-19. Nine patients had venous thromboembolisms (VTE), all of which occurred before the pandemic onset. CONCLUSIONS: There were no significant differences found in the mean age or OS of the MGUS patients who died before versus after the pandemic onset. An increase in VTE rates was not seen. Study results are limited by small patient numbers.

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.

Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.

Multiple myeloma is the most common hematological malignancy in Gaucher disease type 1 (GD1). There is a lack of outcome data and consensus regarding screening of gammopathies. This study explores utility of screening in Porto Alegre, Brazil, and Cincinnati, Ohio. A retrospective analysis of clinical information and laboratory data from GD1 patients was performed. Over 19 years, 68 individuals with GD1 (31 males, 37 females) underwent screening, and 20 (29.4%) had abnormalities. Twelve (17.6%) had polyclonal gammopathy (mean age 24.2 years, p = .02), seven (10%) had monoclonal gammopathy of uncertain significance (MGUS; mean age 52.7 years, p = .009). One had multiple myeloma (age 61 years). Risk factors for MGUS included male gender (p = .05), p.N409S allele (p = .032). MGUS developed in six of 62 treated and two of four untreated individuals. Of those with MGUS receiving treatment, four were on enzyme replacement therapy (ERT) and one on substrate reduction therapy (SRT). Gammopathy normalized in 13 treated individuals (10 polyclonal, three MGUS) and remained abnormal in two treated individuals (two polyclonal, two MGUS). Gammopathy relapse was seen in one individual with MGUS and three with polyclonal gammopathy. This study describes screening for gammopathies and identifies risk factors in individuals with GD1.

Type-I Cryoglobulinaemia Associated to Monoclonal Gammapathy of Undetermined Significance.

Cryoglobulins are immunoglobulins that undergo reversible precipitation at cold temperatures. Monoclonal type-I cryoglobulinaemia is the least frequent and is associated to hematological diseases such as multiple myeloma, Waldenström's macroglobulinaemia, chronic lymphocytic leukaemia and lymphoma. We describe the case of a 60-year-old female patient, who suffered from burning pain in her feet for ten months before her admission. The patient presented intermittent distal cyanosis that progressed to digital ischaemia. She also reported paresthesia in her hands, difficulty in writing, and a 26-kg-weight loss. At the physical examination, it was identified livedo reticularis, palpable purpura, and painful ecchymotic lesions in her calves and feet. Moreover, peripheral pulses were palpable and symmetrical. It was observed an atrophy of the right first dorsal interosseous and both extensor digitorum brevis, as well as a distal bilateral apalesthesia and allodynia. Both Achilles reflexes were absent. Laboratory tests revealed anemia, high erythrosedimentation rate and C-reactive protein. Serum protein electrophoresis showed a monoclonal IgG-Kappa gammopathy. The results also evidenced the presence of Bence-Jones proteinuria. The bone marrow biopsy revealed less than 10% of plasma cells, and skin biopsy informed leukocytoclastic vasculitis. The patient was treated with high-dose intravenous steroids and cyclophosphamide. The treatment showed that the skin lesions had improved, pain disappeared and motor deficit stopped its progression.

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.

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.

Monoclonal gammopathy of renal significance (MGRS): the characteristics and significance of a new meta-entity.

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.

Enfermedad renal por depósito idiopático de cadenas livianas. Caso clínico / Kidney involvement in idiopathic light chain disease. Report of one case

El Mieloma Múltiple (MM) es la gammapatia monoclonal (GM) que más frecuentemente compromete la función renal, no obstante, un número creciente de enfermedades renales asociadas a GM están siendo reconocidas. Las GM son un conjunto de entidades caracterizadas por la producción anómala y secreción a la sangre de una inmunoglobulina (Ig) monoclonal (de un mismo clon de células plasmáticas) o un fragmento de la misma (cadenas pesadas, ligeras o ambas) que puede depositarse en los órganos de forma organizada como cristales, fibrillas o microtúbulos, o de forma no organizada (granular). Esta Ig llega a depositarse principalmente en el riñón, no sólo porque es un órgano muy vascularizado, sino también porque el túbulo renal tiene un papel predominante en el metabolismo de las Igs. El diagnóstico del compromiso renal ha sufrido cambios en las últimas décadas, siendo cada vez más certero debido al desarrollo e implementación rutinaria de distintas técnicas de laboratorio (tinciones con anticuerpos específicos contra cadenas ligeras kappa y lambda, estudio con microscopia electrónica (ME) y el desarrollo de técnicas cada vez más sensibles para detectar el componente monoclonal en sangre u orina). El compromiso renal en estas patologías frecuentemente se asocia a GM malignas, generalmente asociadas a depósitos de cadenas ligeras. Cada vez son más los casos de disfunción renal asociados a GM, y en muchos de estos es evidente el progreso a enfermedad renal terminal y con altas tasas de recurrencia después del transplante renal.

Multiple myeloma (MM) is the monoclonal gammopathy (MG) that most frequently compromises renal function; however, a growing number of renal diseases associated with monoclonal gammopathies are being recognized. Monoclonal gammopathies (MG) are a set of entities characterized by the abnormal production and secretion into the blood of a monoclonal immunoglobulin (Ig) from a single clone of plasma cells or a fragment thereof (heavy, light chains orboth) which can be deposited in the organs in an organized way such as crystals, fibrils or microtubules, orin an unorganized (granular) form. This Ig is mainly deposited in the kidney, not only because it is a very vascularized organ, but also because the renal tubule plays a predominant role in the metabolism of Igs. The diagnosis of renal involvement has undergone changes in the last decades, being more and more certain due to the development and routine implementation of different laboratory techniques (stains with specific antibodies against kappa and lambda light chains, study with electron microscopy (EM), development of increasingly sensitive techniques for detecting the monoclonal component in blood or urine). Renal involvement in these pathologies is often associated with malignant MG, generally associated with light chain deposits. Increasingly, there are cases of renal dysfunction associated with MG, and progression to terminal renal disease and high rates of recurrence after renal transplantation are evident in many of these.

Cutaneous Manifestations in POEMS Syndrome: Case Report and Review.

The authors report a case of sensorimotor polyneuropathy, diffuse cutaneous hyperpigmentation, skin sclerodermiform thickening and papular lesions in the infraclavicular and abdominal region. Besides weight loss, there were diabetes mellitus and hypothyroidism. The alterations were consistent with POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy and Skin changes) syndrome, which is a rare systemic disease with monoclonal proliferation of plasmacytes and slow progression. Cutaneous alterations are present in 68% of patients with diffuse cutaneous hyperpigmentation, plethora and acrocyanosis. Leukonychia, necrotizing vasculitis, hypertrichosis and cutaneous thickening of sclerodermiform type are also cited. The onset of multiple cutaneous angiomas in this syndrome has been observed in 24-44% of patients.