Clinical features, damage accrual, and survival in patients with familial systemic lupus erythematosus: data from a multi-ethnic, multinational Latin American lupus cohort.

OBJECTIVES: This study aimed to compare the clinical features, damage accrual, and survival of patients with familial and sporadic systemic lupus erythematosus (SLE). METHODS: A multi-ethnic, multinational Latin American SLE cohort was studied. Familial lupus was defined as patients with a first-degree SLE relative; these relatives were interviewed in person or by telephone. Clinical variables, disease activity, damage, and mortality were compared. Odds ratios (OR) and 95% confidence intervals (CI) were estimated. Hazard ratios (HR) were calculated using Cox proportional hazard adjusted for potential confounders for time to damage and mortality. RESULTS: A total of 66 (5.6%) patients had familial lupus, and 1110 (94.4%) had sporadic lupus. Both groups were predominantly female, of comparable age, and of similar ethnic distribution. Discoid lupus (OR = 1.97; 95% CI 1.08-3.60) and neurologic disorder (OR = 1.65; 95% CI 1.00-2.73) were significantly associated with familial SLE; pericarditis was negatively associated (OR = 0.35; 95% CI 0.14-0.87). The SLE Disease Activity Index and Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI) were similar in both groups, although the neuropsychiatric (45.4% vs. 33.5%; p = 0.04) and musculoskeletal (6.1% vs. 1.9%; p = 0.02) domains of the SDI were more frequent in familial lupus. They were not retained in the Cox models (by domains). Familial lupus was not significantly associated with damage accrual (HR = 0.69; 95% CI 0.30-1.55) or mortality (HR = 1.23; 95% CI 0.26-4.81). CONCLUSION: Familial SLE is not characterized by a more severe form of disease than sporadic lupus. We also observed that familial SLE has a higher frequency of discoid lupus and neurologic manifestations and a lower frequency of pericarditis.

First Latin American clinical practice guidelines for the treatment of systemic lupus erythematosus: Latin American Group for the Study of Lupus (GLADEL, Grupo Latino Americano de Estudio del Lupus)-Pan-American League of Associations of Rheumatology (PANLAR).

Systemic lupus erythematosus (SLE), a complex and heterogeneous autoimmune disease, represents a significant challenge for both diagnosis and treatment. Patients with SLE in Latin America face special problems that should be considered when therapeutic guidelines are developed. The objective of the study is to develop clinical practice guidelines for Latin American patients with lupus. Two independent teams (rheumatologists with experience in lupus management and methodologists) had an initial meeting in Panama City, Panama, in April 2016. They selected a list of questions for the clinical problems most commonly seen in Latin American patients with SLE. These were addressed with the best available evidence and summarised in a standardised format following the Grading of Recommendations Assessment, Development and Evaluation approach. All preliminary findings were discussed in a second face-to-face meeting in Washington, DC, in November 2016. As a result, nine organ/system sections are presented with the main findings; an 'overarching' treatment approach was added. Special emphasis was made on regional implementation issues. Best pharmacologic options were examined for musculoskeletal, mucocutaneous, kidney, cardiac, pulmonary, neuropsychiatric, haematological manifestations and the antiphospholipid syndrome. The roles of main therapeutic options (ie, glucocorticoids, antimalarials, immunosuppressant agents, therapeutic plasma exchange, belimumab, rituximab, abatacept, low-dose aspirin and anticoagulants) were summarised in each section. In all cases, benefits and harms, certainty of the evidence, values and preferences, feasibility, acceptability and equity issues were considered to produce a recommendation with special focus on ethnic and socioeconomic aspects. Guidelines for Latin American patients with lupus have been developed and could be used in similar settings.

Rheumatoid arthritis in Latin Americans enriched for Amerindian ancestry is associated with loci in chromosomes 1, 12, and 13, and the HLA class II region.

OBJECTIVE: To identify susceptibility loci for rheumatoid arthritis (RA) in Latin American individuals with admixed European and Amerindian genetic ancestry. METHODS: Genotyping was performed in 1,475 patients with RA and 1,213 control subjects, using a customized BeadArray containing 196,524 markers covering loci previously associated with various autoimmune diseases. Principal components analysis (EigenSoft package) and Structure software were used to identify outliers and define the population substructure. REAP software was used to define cryptic relatedness and duplicates, and genetic association analyses were conducted using Plink statistical software. RESULTS: A strong genetic association between RA and the major histocompatibility complex region was observed, localized within BTNL2/DRA-DQB1- DQA2 (P = 7.6 × 10(-10) ), with 3 independent effects. We identified an association in the PLCH2-HES5-TNFRSF14-MMEL1 region of chromosome 1 (P = 9.77 × 10(-6) ), which was previously reported in Europeans, Asians, and Native Canadians. We identified one novel putative association in ENOX1 on chromosome 13 (P = 3.24 × 10(-7) ). Previously reported associations were observed in the current study, including PTPN22, SPRED2, STAT4, IRF5, CCL21, and IL2RA, although the significance was relatively moderate. Adjustment for Amerindian ancestry improved the association of a novel locus in chromosome 12 at C12orf30 (NAA25) (P = 3.9 × 10(-6) ). Associations with the HLA region, SPRED2, and PTPN22 improved in individuals positive for anti-cyclic citrullinated peptide antibodies. CONCLUSION: Our data define, for the first time, the contribution of Amerindian ancestry to the genetic architecture of RA in an admixed Latin American population by confirming the role of the HLA region and supporting the association with a locus in chromosome 1. In addition, we provide data for novel putative loci in chromosomes 12 and 13.

Prevalence and correlates of metabolic syndrome in patients with rheumatoid arthritis in Argentina.

BACKGROUND: The increased mortality reported among patient with rheumatoid arthritis (RA) has been attributed to cardiovascular disease. Metabolic syndrome (MS) is a cluster of major risk factors for cardiovascular disease such as dyslipidemia, obesity, hypertension, and diabetes. There is a lack of reporting on the prevalence of MS in RA patients in Argentina. OBJECTIVES: The objectives of this study were to determine and compare the frequency of MS in patients with RA and a control group and to assess the factors associated with MS. METHODS: This is a cross-sectional study involving 1033 (409 RA and 624 age- and sex-matched control subjects) patients, followed up at 9 different rheumatology units in Argentina. Metabolic syndrome was defined according to the Adult Treatment Panel III (ATP III) and the International Diabetes Federation (IDF). The relationship between demographic variables, clinical data (disease duration, disease activity by Disease Activity Score of 28 joints, presence of rheumatoid factor [RF] and/or anti-cyclic citrullinated peptide antibody, presence of extra-articular manifestations), pharmacological treatment, and MS was examined by descriptive statistics. Variables with P ≤ 0.10 in these analyses were then examined by logistic regression. RESULTS: The frequency of MS in RA patients and the control group was 30% versus 39% (P = 0.002) when defined as per the ATP III and 35% versus 40% (P = 0.10) as per the IDF. Variables independently associated with MS in RA patients were age (odds ratio [OR], 1.03; 95% confidence interval [CI], 1.01-1.06 [P = 0.01] for the ATP III and OR, 1.03; 95% CI, 1.01-1.05 [P < 0.001] for the IDF), the presence of RF and/or anti-cyclic citrullinated peptide antibody (OR, 2.91; 95% CI, 1.11-7.61 [P = 0.02] for the ATP III and OR, 2.37; 95% CI, 1.09-5.16 [P = 0.02] for the IDF), and the use of hydroxychloroquine (OR, 0.48; 95% CI, 0.23-0.97 [P = 0.04] only for the IDF). CONCLUSIONS: In this study, we were not able to demonstrate a higher frequency of MS in RA patients. However, older patients with positive RF or CCP have a higher risk of MS. A protective effect to develop MS was seen in the population treated with hydroxychloroquine.

[Anticitrulin antibody and the extra-articular manifestations in rheumatoid arthritis]. / Anticuerpo anticitrulina y manifestaciones extra articulares en artritis reumatoidea.

A large proportion of rheumatoid arthritis (RA) patients develop extra-articular manifestations (EAM), which are associated with morbidity and early mortality. Anti cyclic citrullinated peptide (ACCP) antibody has proven to be highly specific for the diagnosis of RA, associated with severe joint damage and may have some role in the pathogenesis of EAM. The aim of this study was to determine the relationship between ACCP antibody and the presence of EAM in RA patients. Seventy four RA patients (ACR 1987) with EAM, > 18 years, more than 6 months duration were included, and an EAM free control, matched by sex and age, for each patient. Demographic, clinical and laboratory variables were compared using t-test, chi-square or Mann-Whitney test. Multivariate analysis was performed: p = 0.05. Patients with EAM presented a greater value of ACCP antibody (116 vs. 34, p < 0.01) and rheumatoid factor (108 vs. 34.5, p < 0.01). Independent association with current smoking habit (p = 0.02, OR = 3.78, 95%: 1.17-12.2), RF positive (p = 0.04, OR 3.23, CI 95%: 1.04 to 11.8) and ACCP antibody positive (p = 0.04, OR 3.23, 95% CI: 1.04-10) was found. The patients with xerostomia (109 vs. 34, p = 0.04), xerophthalmia (150 vs. 34, p < 0.01), subcutaneous nodules (141 vs. 34, p < 0.01) and pulmonary fibrosis (158 vs. 34, p = 0.04) had a higher degree of the ACCP antibody, than controls. In conclusion, ACCP antibody positive, RF positive and smoking were independent risk factors for the development of MEXA.

[Prevalence of dyslipidemia and elevated cardiovascular risk in patients with rheumatoid arthritis]. / Prevalencia de dislipemia y riesgo cardiovascular elevado en pacientes con artritis reumatoide.

The objectives of this study were to compare the frequency of dyslipidemia (DLP) and the elevated cardiovascular risk between rheumatoid arthritis (RA) patients and a control group, to identify disease-related factors associated with the presence of DLP and to estimate the frequency of RA patients receiving treatment for DLP. This is a cross sectional study that included 409 RA patients and 624 controls. Cardiovascular (CV) risk was determined using the Framingham score, National Cholesterol Education Program (NCEP) and the Systematic Coronary Risk Evaluation (SCORE) adapted versions according to the European League Against Rheumatism (EULAR) guidelines. DLP was defined according to the Adult Treatment Panel III (ATPIII). The frequency of CV risk was similar in RA patients and controls, except when NCEP-EULAR adapted version for RA was applied (7% vs. 2%; p = 0.00002). A 43% of patients and 47% of controls had DLP (p = 0.15). RA patients with DLP tended to have extra-articular manifestations more frequently (36% vs. 24%; p = 0.01) and higher erythrocyte sedimentation rate (ESR) (21 [13-35] vs. 18 [10-30] mm; p = 0.003). RA patients treated for DLP varied between 11% and 32% according to the definition used. Patients with RA showed an elevated CV risk only when the NCEP-EULAR definition was used. Among RA patients, those with higher ESR and the presence of extra-articular manifestations were more likely to show DLP. The vast majority of patients were not receiving treatment for DLP.

[Acute monoarthritis in a third level hospital]. / Estudio de los pacientes con monoartritis aguda en un hospital de tercer nivel.

INTRODUCTION: Acute monoarthritis (AM) represents a relevant cause of morbidity that requires prompt medical care. The study of synovial fluid becomes relevant to allow a rapid diagnostic approach. The main objective of the study was to determine the frequency and clinical-analytical characteristics of episodes of AM and acute bursitis evaluated in a hospital during a period of 6 years. METHODS: Cross-sectional retrospective analytical study in a hospital at Córdoba, Argentina. All episodes of acute monoarthritis and bursitis that occurred in patients aged 18 years or older between 2012 and 2017 were included. AM in pregnant women and chronic monoarthritis were excluded. RESULTS: One hundred and eighty episodes of AM and 12 of acute bursitis were included. Among the AM, 120 (66.7%) occurred in male patients and the average age was 62.1±16.9 years. The main cause of AM was septic, identifying 70 (36%) cases, followed by microcrystalline AM identify 54 (28%) cases, which corresponded to gout and calcium pyrophosphate dihydrate (CPPD) with 27 (14%) cases each one. Monosodium urate crystals were identified in 26 (14.3%) patients, CPPD in 28 (15.6%) and cholesterol in 1 (0.6%). DISCUSSION: The main cause of AM was septic arthritis, followed by microcrystalline AM (gout and secondary to CPPD). The main affected joint was the knee, followed by the shoulder. Synovial fluid analysis was a key element when making the differential diagnosis between the different causes of acute monoarthritis and bursitis.

Introducción: La monoartritis aguda (MA) representa una causa relevante de morbilidad que requiere de atención médica oportuna: El estudio del líquido sinovial constituye un elemento clave para su diagnóstico. El objetivo del estudio fue determinar la frecuencia y características clínicas-analíticas de los episodios de MA y bursitis agudas valoradas en un hospital durante un período de 6 años. Métodos: Estudio analítico retrospectivo de corte transversal en un hospital de Córdoba, Argentina. Se identificaron todos los episodios de monoartritis y bursitis agudas que ocurrieron en pacientes de =18 años entre 2012 y 2017. Se excluyeron los cuadros de MA en embarazadas y las monoartritis crónicas. Resultados: Se incluyeron 180 episodios de MA y 12 de bursitis aguda. Entre las MA, 120 (66.7%) ocurrieron en hombres, la edad promedio fue 62.1±16.9 años. La principal causa de MA fue séptica, identificándose 70 (36%) casos, seguida la secundaria a microcristales con 54 episodios (28%) que correspondieron 27 (14%) a MA por gota y 27 (14%) a MA por depósitos de pirofosfato de calcio dihidratado (CPPD). Se identificaron cristales de urato monosódico en 26 (14.3%) pacientes, CPPD en 28 (15.6%) y de colesterol en 1 (0.6%). Discusión: La principal causa de MA fue séptica, seguida de la secundaria a microcristales (gota y secundaria a CPPD). La principal articulación afectada fue la rodilla, seguida del hombro. El análisis del líquido sinovial fue un elemento clave a la hora de poder realizar el diagnóstico diferencial entre las distintas causas de monoartritis aguda y bursitis.

Posterior reversible leukoencephalopathy syndrome: Case series and review of the literature. / Síndrome de leucoencefalopatía posterior reversible: serie de casos y revisión de la literatura.

OBJECTIVE: To describe clinical manifestations, antecedents, comorbidities and associated treatments, imaging findings, and follow-up in patients with posterior reversible encephalopathy syndrome. METHODS: A retrospective, descriptive analysis of admitted patients was performed between June 2009 and May 2014 in a third-level care hospital. We evaluated age, sex, comorbidities, symptoms, values of blood pressure at admission, renal function, medication and time elapsed until the disappearance of symptoms. RESULTS: Thirteen patients were included. In all, 77% of them had a history of hypertension at baseline and 85% had impaired renal function. The most prevalent comorbidity was renal transplantation, and 85% had deterioration of renal function. Five of the patients had undergone renal transplantation. The most common clinical manifestation was seizures. All had subcortical lesions and bilateral parietooccipital involvement was the finding most frequently observed. CONCLUSION: This syndrome should be taken into account in the differential diagnoses of patients presenting with acute neurological syndromes and the abovementioned risk factors.

Predictors of renal damage in systemic lupus erythematous patients: data from a multiethnic, multinational Latin American lupus cohort (GLADEL).

AIM: A decrease in proteinuria has been considered protective from renal damage in lupus nephritis (LN), but a cut-off point has yet to be established. The aim of this study was to identify the predictors of renal damage in patients with LN and to determine the best cut-off point for a decrease in proteinuria. METHODS: We included patients with LN defined clinically or histologically. Possible predictors of renal damage at the time of LN diagnosis were examined: proteinuria, low complement, anti-double-stranded DNA antibodies, red cell casts, creatinine level, hypertension, renal activity (assessed by the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)), prednisone dose, immunosuppressive drugs and antimalarial use. Sociodemographic variables were included at baseline. Proteinuria was assessed at baseline and at 12 months, to determine if early response (proteinuria <0.8 g/day within 12 months since LN diagnosis) is protective of renal damage occurrence. Renal damage was defined as an increase of one or more points in the renal domain of The Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI). Cox regression models using a backward selection method were performed. RESULTS: Five hundred and two patients with systemic lupus erythematosus patients were included; 120 patients (23.9%) accrued renal damage during their follow-up. Early response to treatment (HR=0.58), antimalarial use (HR=0.54) and a high SES (HR=0.25) were protective of renal damage occurrence, whereas male gender (HR=1.83), hypertension (HR=1.86) and the renal component of the SLEDAI (HR=2.02) were risk factors for its occurrence. CONCLUSIONS: Early response, antimalarial use and high SES were protective of renal damage, while male gender, hypertension and higher renal activity were risk factors for its occurrence in patients with LN.

Predictors of Remission and Low Disease Activity State in Systemic Lupus Erythematosus: Data from a Multiethnic, Multinational Latin American Cohort.

OBJECTIVE: To determine the predictors of remission and low disease activity state (LDAS) in patients with systemic lupus erythematosus (SLE). METHODS: Three disease activity states were defined: Remission = SLE Disease Activity Index (SLEDAI) = 0 and prednisone ≤ 5 mg/day and/or immunosuppressants (maintenance dose); LDAS = SLEDAI ≤ 4, prednisone ≤ 7.5 mg/day and/or immunosuppressants (maintenance dose); and non-optimally controlled state = SLEDAI > 4 and/or prednisone > 7.5 mg/day and/or immunosuppressants (induction dose). Antimalarials were allowed in all groups. Patients with at least 2 SLEDAI reported and not optimally controlled at entry were included in these analyses. Outcomes were remission and LDAS. Multivariable Cox regression models (stepwise selection procedure) were performed for remission and for LDAS. RESULTS: Of 1480 patients, 902 were non-optimally controlled at entry; among them, 196 patients achieved remission (21.7%) and 314 achieved LDAS (34.8%). Variables predictive of a higher probability of remission were the absence of mucocutaneous manifestations (HR 1.571, 95% CI 1.064-2.320), absence of renal involvement (HR 1.487, 95% CI 1.067-2.073), and absence of hematologic involvement (HR 1.354, 95% CI 1.005-1.825); the use of immunosuppressive drugs before the baseline visit (HR 1.468, 95% CI 1.025-2.105); and a lower SLEDAI score at entry (HR 1.028, 95% CI 1.006-1.051 per 1-unit decrease). These variables were predictive of LDAS: older age at entry, per 5-year increase (HR 1.050, 95% CI 1.004-1.098); absence of mucocutaneous manifestations (HR 1.401, 95% CI 1.016-1.930) and renal involvement (HR 1.344, 95% CI 1.049-1.721); and lower SLEDAI score at entry (HR 1.025, 95% CI 1.009-1.042). CONCLUSION: Absence of mucocutaneous, renal, and hematologic involvement, use of immunosuppressive drugs, and lower disease activity early in the course of the disease were predictive of remission in patients with SLE; older age was predictive of LDAS.

Estudio de los pacientes con monoartritis aguda en un hospital de tercer nivel / Acute monoarthritis in a third level hospital

Resumen Introducción: La monoartritis aguda (MA) represen ta una causa relevante de morbilidad que requiere de atención médica oportuna: El estudio del líquido sino vial constituye un elemento clave para su diagnóstico. El objetivo del estudio fue determinar la frecuencia y características clínicas-analíticas de los episodios de MA y bursitis agudas valoradas en un hospital durante un período de 6 años. Métodos: Estudio analítico retrospectivo de corte transversal en un hospital de Córdoba, Argentina. Se identificaron todos los episodios de monoartritis y bur sitis agudas que ocurrieron en pacientes de ≥18 años entre 2012 y 2017. Se excluyeron los cuadros de MA en embarazadas y las monoartritis crónicas. Resultados: Se incluyeron 180 episodios de MA y 12 de bursitis aguda. Entre las MA, 120 (66.7%) ocurrieron en hombres, la edad promedio fue 62.1±16.9 años. La principal causa de MA fue séptica, identificándose 70 (36%) casos, seguida la secundaria a microcristales con 54 episodios (28%) que correspondieron 27 (14%) a MA por gota y 27 (14%) a MA por depósitos de pirofosfato de calcio dihidratado (CPPD). Se identificaron cristales de urato monosódico en 26 (14.3%) pacientes, CPPD en 28 (15.6%) y de colesterol en 1 (0.6%). Discusión: La principal causa de MA fue séptica, seguida de la secundaria a microcristales (gota y secun daria a CPPD). La principal articulación afectada fue la rodilla, seguida del hombro. El análisis del líquido sino vial fue un elemento clave a la hora de poder realizar el diagnóstico diferencial entre las distintas causas de monoartritis aguda y bursitis.

Abstract Introduction: Acute monoarthritis (AM) represents a relevant cause of morbidity that requires prompt medical care. The study of synovial fluid becomes re levant to allow a rapid diagnostic approach. The main objective of the study was to determine the frequency and clinical-analytical characteristics of episodes of AM and acute bursitis evaluated in a hospital during a period of 6 years. Methods: Cross-sectional retrospective analytical study in a hospital at Córdoba, Argentina. All episodes of acute monoarthritis and bursitis that occurred in patients aged 18 years or older between 2012 and 2017 were included. AM in pregnant women and chronic monoarthritis were excluded. Results: One hundred and eighty episodes of AM and 12 of acute bursitis were included. Among the AM, 120 (66.7%) occurred in male patients and the average age was 62.1±16.9 years. The main cause of AM was septic, identifying 70 (36%) cases, followed by microcrystalline AM identify 54 (28%) cases, which corresponded to gout and calcium pyrophosphate dihydrate (CPPD) with 27 (14%) cases each one. Monosodium urate crystals were identified in 26 (14.3%) patients, CPPD in 28 (15.6%) and cholesterol in 1 (0.6%). Discussion: The main cause of AM was septic arthri tis, followed by microcrystalline AM (gout and secondary to CPPD). The main affected joint was the knee, followed by the shoulder. Synovial fluid analysis was a key ele ment when making the differential diagnosis between the different causes of acute monoarthritis and bursitis.

Effects of Amerindian Genetic Ancestry on Clinical Variables and Therapy in Patients with Rheumatoid Arthritis.

OBJECTIVE: To define whether Amerindian genetic ancestry correlates with clinical and therapeutic variables in admixed individuals with rheumatoid arthritis (RA) from Latin America. METHODS: Patients with RA (n = 1347) and healthy controls (n = 1012) from Argentina, Mexico, Chile, and Peru were included. Samples were genotyped for the Immunochip v1 using the Illumina platform. Clinical data were obtained through interviews or the clinical history. RESULTS: Percentage of Amerindian ancestry was comparable between cases and controls. Morning stiffness (p < 0.0001, OR 0.05), rheumatoid factor (RF; p < 0.0001, OR 0.22), radiographic changes (p < 0.0001, OR 0.05), and higher number of criteria were associated with lower Amerindian ancestry after Bonferroni correction. Higher Amerindian ancestry correlated only with weight loss (pBonferroni < 0.0001, OR 2.85). Increased Amerindian ancestry correlated with higher doses of azathioprine (p < 0.0001, OR 163.6) and sulfasalazine (p < 0.0001, OR 48.6), and inversely with methotrexate (p = 0.001, OR 0.35), leflunomide (p = 0.001, OR 0.16), and nonsteroidal antiinflammatory drugs (pBonferroni = 0.001, OR 0.37). Only the presence of RF and weight loss were modified after confounders adjustment. CONCLUSION: Amerindian ancestry protects against most major clinical criteria of RA, but regarding the association of RF with increased European ancestry, age, sex, and smoking are modifiers. Ancestry also correlates with the therapeutic profiles.

Poliartritis séptica: Presentación de tres casos / Polyarticular septic arthritis: Report of three cases

La artritis séptica poliarticular se define como la infección de dos o más articulaciones, casi siempre de etiología bacteriana y diseminación hematógena. Es considerada una emergencia médica, lo que conlleva reconocerla precozmente, evitar la diseminación de la infección asociada con alta mortalidad y el riesgo de daño estructural articular. Presentamos tres casos de artritis séptica poliarticular, destacándose la importancia de la sospecha clínica y el estudio temprano del líquido sinovial para el diagnóstico y el tratamiento con antimicrobianos, evacuación y lavado articular.

Polyarticular septic arthritis is defined as the infection of two or more joints, almost always of bacterial etiology and hematogenous spread. It is considered a medical emergency, which should be recognized early, avoiding the spread of infection, associated with high mortality and the risk of joint structural damage. We present three cases of polyarticular septic arthritis, highlighting the importance of clinical suspicion and early synovial fluid study for diagnosis and treatment with antimicrobials, joint evacuation and joint lavage.

Policondritis recidivante como fenómeno paraneoplásico en paciente con síndrome mielodisplásico / Relapsing Polychondritis as paraneoplastic phenomenon in patient with Myelodysplastic Syndrome

Los síndromes mielodisplásicos son un grupo heterogéneo de enfermedades hematológicas, caracterizadas por hematopoyesis ineficaz con riesgo de progresión a leucemia mieloide aguda. Pueden asociarse a manifestaciones autoinmunes en un 10-30% de los pacientes, apareciendo antes, durante o luego del diagnóstico del trastorno hematológico. La prevalencia de policondritis recidivante como fenómeno paraneoplásico es de 0,7-5,4%, presentándose de forma simultánea en la mayoría de los casos. Otros procesos autoinmunes asociados incluyen: vasculitis sistémica, poliartritis seronegativa, dermatosis neutrofílica, citopenias inmunomediadas, presencia de autoanticuerpos y crioglobulinemia. Reportamos el caso de una mujer de 60 años, sin antecedentes patológicos previos, que presentó un cuadro de policondritis recidivante y vasculitis sistémica asociadas a síndrome mielodisplásico.

Myelodysplastic syndromes are a heterogeneous group of hematological diseases, characterized by ineffective hematopoiesis with risk of progression to acute myeloid leukemia. They can be associated to autoimmune manifestations in 10-30% of patients, appearing before, during or after the diagnosis of the hematological disorder. The prevalence of relapsing polychondritis as a paraneoplastic phenomenon is 0.7-5.4%, occurring simultaneously in the majority of cases. Other associated autoimmune processes include: systemic vasculitis, seronegative polyarthritis, neutrophilic dermatosis, immunomediated cytopenias, presence of autoantibodies and cryoglobulinemia. We report the case of a 60-year-old woman, with no previous medical history, who presented with recurrent polychondritis and systemic vasculitis associated with myelodysplasia.

The GLADEL multinational Latin American prospective inception cohort of 1,214 patients with systemic lupus erythematosus: ethnic and disease heterogeneity among "Hispanics".

Clinical and laboratory manifestations and outcome of systemic lupus erythematosus (SLE) may vary in different populations. A prospective multinational inception cohort should prove useful in identifying the influence of ethnicity on the clinical characteristics of SLE. We therefore analyzed clinical, laboratory, and prognostic variables in Latin American SLE patients with disease of recent onset who were entered into a prospective cohort, and compared these variables in the cohort's 3 major ethnic groups. Thirty-four centers from 9 Latin American countries participated by randomly incorporating SLE patients within 2 years of diagnosis into a standardized database. Participating centers were selected for their expertise in diagnosing and managing SLE. We were then able to evaluate prospectively socioeconomic variables, ethnicity, type of medical care, clinical and laboratory features, disease activity, damage, and mortality at each site. A coordinating center controlled the quality of the information submitted. Of the 1,214 SLE patients included in the cohort, 537 were mestizos, 507 were white, and 152 were African-Latin American (ALA). (There were also small numbers of pure Amerindian and oriental individuals.) Significant differences were found between them in socioeconomic characteristics, type of care, and level of education favoring whites. Mestizos and ALA were younger at onset. Delay to diagnosis and disease duration was shorter in ALA. Fever was more frequent in whites; discoid lesions in ALA; renal disease and lymphopenia in mestizos and ALA. Although we found differences in background variables between ethnic groups from different countries, mestizos from 2 distant countries (Argentina and Mexico) were clinically akin and showed similar differences to whites. Mortality was associated with lower education, poor medical coverage, and shorter follow-up. In an exploratory model nonwhite ethnicity was associated with renal disease and lymphopenia, damage, and cumulative American College of Rheumatology criteria. These differences in clinical, prognostic, socioeconomic, educational, and access to medical care features in Latin American lupus patients of 3 major ethnic groups from 9 different countries may have an impact on the patients' disease. "Hispanics," as they have come to be generically termed on the basis of language, actually constitute a markedly heterogeneous group of subjects.

[Inclusion body myositis. Report of 4 cases]. / Miositis por cuerpos de inclusión. Comunicación de cuatro casos.

Inclusion body myositis (IBM) is a primary inflammatory myopathy characterized by an older age at presentation. We describe four IBM cases fulfilling Mendell's diagnostic criteria. All patients were older than 60 years at diagnosis and the mean length of time from onset to diagnosis was 5.7 years. Two of them complained of leg weakness with unsteady gait and the other two, of upper limb weakness. Three patients had dysphagia, one of them had diaphragmatic paralysis and another had bilateral blepharoptosis. Histological sections of the muscle biopsy showed mononuclear cell invasion of nonnecrotic muscle fibers, rimmed vacuoles, intracellular amyloid deposits and 16-21 nm tubulofilaments by electron microscopy. Mitochondrial anomalies were found in two cases. Only one patient had transient response to steroid therapy. Our serie shows that clinical presentation of inclusion body myositis includes a broader spectrum than the classical description.

[Mucocutaneous lesions in patients with systemic lupus erythematosus]. / Manifestaciones mucocutáneas en pacientes con lupus eritematoso sistémico.

The objective was to analyze the prevalence of mucocutaneous lesions in patients with systemic lupus erythematosus (SLE). During a 3-year period, we analyzed 77 patients with a diagnosis of SLE. The mucocutaneous lesions were classified into specific and non-specific. We defined skin type, sunlight exposure and photoprotection and correlated these lesions with serology and disease activity. Acute specific lesions were found in 67.5% of the patients, subacute lupus in 6.5% and chronic lesions in 26.0%. The most prevalent non-specific lesions were alopecia (59.7%), photosensitivity (57.1%), Raynaud's syndrome (46.7%), oral ulcerations (15.6%) and livedo reticularis (11.7%). Skin type 3 (35%) and exposure to mild ultraviolet radiation (74%) were seen in the majority of the patients. Appropriate sunlight protection was only used by 47% of the patients. When dermatological lesions and serology were compared, we found a significant association between malar rash, photosensitivity, livedo reticularis and alopecia with the presence of anti-Ro and Raynaud's phenomenon in patients with positive anti-Sm. The presence of malar rash, photosensitivity, Raynaud's phenomenon, diffuse alopecia and livedo reticularis was more frequent among patients with active disease. The prevalence of mucocutaneous manifestation in our population was slightly higher than data reported in other series. The presence of malar rash, diffuse alopecia, photosensitivity and livedo reticularis significantly related with the presence of anti-Ro and Raynaud's phenomenon with anti-Sm. All these lesions were more frequently seen in patients with active disease.

[Severe polyarthritis and tenosynovitis due to Streptococcus agalactiae in a patient with functional hyposplenia]. / Poliartritis y tenosinovitis grave por Streptococcus agalactiae en un paciente con hipoesplenia funcional.

Cases of arthritis caused by Streptococcus agalactiae are infrequent and in our knowledge there are no case reports of tenosynovitis caused by S. agalactiae. A 46-year-old woman presented with fever, polyarthralgia, myalgia, diarrhea and vomiting. She had a history of papillary thyroid carcinoma and functional hyposplenia. She was febrile, with arthritis in hands, wrists, elbows, right shoulder and left ankle joints, and presented tenosynovitis in both feet and left hand. Blood and right olecranon bursa sample cultures were positive for S. agalactiae. An ultrasound scan made at the musculus tibialis anterior of left foot revealed signs of tenosynovitis. She was treated with intravenous cefazolin for 20 days and oral cefuroxime for 12 days. The joint involvement completely subsided in 60 days. Streptococcus agalactiae can cause, infrequently, a polyarthritis and tenosynovitis syndrome similar to disseminated gonococcal infection.