Survival, causes of death, and prognostic factors in systemic sclerosis: analysis of 947 Brazilian patients.

OBJECTIVE: To analyze survival, prognostic factors, and causes of death in a large cohort of patients with systemic sclerosis (SSc). METHODS: From 1991 to 2010, 947 patients with SSc were treated at 2 referral university centers in Brazil. Causes of death were considered SSc-related and non-SSc-related. Multiple logistic regression analysis was used to identify prognostic factors. Survival at 5 and 10 years was estimated using the Kaplan-Meier method. RESULTS: One hundred sixty-eight patients died during the followup. Among the 110 deaths considered related to SSc, there was predominance of lung (48.1%) and heart (24.5%) involvement. Most of the 58 deaths not related to SSc were caused by infection, cardiovascular or cerebrovascular disease, and cancer. Male sex, modified Rodnan skin score (mRSS) > 20, osteoarticular involvement, lung involvement, and renal crisis were the main prognostic factors associated to death. Overall survival rate was 90% for 5 years and 84% for 10 years. Patients presented worse prognosis if they had diffuse SSc (85% vs 92% at 5 yrs, respectively, and 77% vs 87% at 10 yrs, compared to limited SSc), male sex (77% vs 90% at 5 yrs and 64% vs 86% at 10 yrs, compared to female sex), and mRSS > 20 (83% vs 90% at 5 yrs and 66% vs 86% at 10 yrs, compared to mRSS < 20). CONCLUSION: Survival was worse in male patients with diffuse SSc, and lung and heart involvement represented the main causes of death in this South American series of patients with SSc.

Undifferentiated spondyloarthritis: a longterm followup.

OBJECTIVE: To analyze the longterm followup of a series of Brazilian patients with undifferentiated spondyloarthritis (uSpA). METHODS: Prospective study analyzing a group of 111 patients with the diagnosis of uSpA, fulfilling the European Spondylarthropathy Study Group and the Amor criteria, who were followed for 5 to 10 years in a single university referral center. Patients had their outcome analyzed at 5, 7, and 10 years. RESULTS: There was a predominance of men (81.1%), white ethnicity (78.4%), and positive HLA-B27 (61.3%), with a mean age at onset of 27.2 years. Twenty-seven patients presented development to ankylosing spondylitis (AS; 24.3%) and 3 to psoriatic arthritis (PsA; 2.7%), while 25 patients (22.5%) went into remission during the followup. Univariate logistic regression analysis revealed that ethnicity, HLA-B27, buttock pain, inflammatory low back pain, ankle involvement, grade I sacroiliitis at the beginning of the study, and the use of sulfasalazine were statistically associated with progression to AS. Multivariate logistic regression analysis revealed that HLA-B27 (p = 0.035, OR 6.720, 95% CI 11.45-39.43) and buttock pain (p = 0.009, OR 6.211, 95% CI 1.591-24.25) were statistically associated with progression to AS. CONCLUSION: In a longterm followup of 111 Brazilian patients with uSpA, HLA-B27 and buttock pain were significant predictors of progression to a definite disease.

Frequency of HLA-B27 and its alleles in patients with Reiter syndrome: comparison with the frequency in other spondyloarthropathies and a healthy control population.

This retrospective study analyzed the HLA-B 27 alleles in a group of 20 consecutive patients with the diagnosis of Reiter syndrome (RS) followed in a tertiary referral university hospital in Brazil, during the period 1990-2006, and compared the data with that observed in other patients with spondyloarthropathies followed at the same institution. Eight cases were associated to gastrointestinal infection, eight cases to previous urethritis, and four cases presented no established preceding infection. HLA-B 27 alleles were typed by polymerase chain reaction-amplified DNA hybridized with sequence-specific oligonucleotide probes (HLA-B 2,701 to HLA-B 2,721). They were compared to a group of 108 patients with ankylosing spondylitis (AS), 40 with undifferentiated spondyloarthropathy (uSpA) and 111 healthy controls. Among the 20 patients, 17 were HLA-B 27 positive (85%). Two HLA-B 27 alleles were observed: HLA-B 2,705 (65%) and HLA-B 2,702 (35%). In the other spondyloarthropathies, the observed alleles were HLA-B 2,705 (90% in AS and 92.5% in uSpA), HLA-B 2,702 (8% in AS and 5% in uSpA), HLA-B 2,704 (1% in AS and 2.5% in uSpA) and HLA-B 2,713 (1% in AS). Among the 111 healthy controls, 80% presented HLA-B 2,705, followed by HLA-B 2,702 in 10%, HLA-B 2,703 in 6%, HLA-B 2,707 in 3% and HLA-B 2,713 in 1%. Concluding, in the HLA-B 27 positive patients with RS in this study there was predominance of HLA-B 2,705 allele, in a lower frequency than that observed in patients with other spondyloarthropathies and healthy controls.

Pulmonary involvement in ankylosing spondylitis.

This is a prospective study analyzing 52 asymptomatic, consecutive patients with ankylosing spondylitis (AS), who submitted to a pulmonary investigation that included plain chest radiography, pulmonary function test (PFT), and thoracic high-resolution computed tomography (HRCT). The results were compared according to sex, race, dorsal spine involvement, thoracic diameter, smoking status, and HLA-B27. There were four patients (8%) with an altered plain chest radiograph. PFT presented a restrictive pattern in 52% of the patients. Thoracic HRCT showed abnormalities in 21 patients (40%), predominantly nonspecific linear parenchymal opacities (19%), lymphadenopathy (12%), emphysema (10%), bronchiectasis (8%), and pleural involvement (8%). Linear parenchymal opacities were associated with a smoking history (p=0.026) and dorsal spine involvement (p=0.032). HLA-B27 was not associated with any abnormality. A lower thoracic diameter was observed in patients with dorsal spine involvement (p=0.0001), restrictive pattern at PFT (p=0.023), and linear parenchymal opacities (p=0.015). The study concluded that nonspecific subclinical pulmonary involvement is frequent in AS.

Characterization and outcome of uveitis in 350 patients with spondyloarthropathies.

This retrospective study analyzed 350 patients with the diagnosis of spondyloarthropathies (SPA) (207 with ankylosing spondylitis (AS), 80 with undifferentiated spondyloarthropathies (USPA) and 63 with psoriatic arthritis (PsA)) attended at a tertiary referral hospital for a minimum period of 5 years. All the patients presented complete clinical (axial and peripheral involvement, heel enthesopathies, extra-articular manifestations) and radiologic (sacroiliac, lumbar, dorsal and cervical spine) evaluation. HLA-B27 and respective alleles were searched. These data were compared with the occurrence of uveitis during the follow-up of the SPA patients. Thirty AS patients (14.5%) presented 55 episodes of acute anterior uveitis; there was statistical association between uveitis and juvenile-onset AS (P = 0.0094) and achillean (P = 0.0003) and plantar (P = 0.0067) enthesopathies; one AS patient presented a single episode of posterior uveitis, associated to tuberculosis. Seven USPA patients (8.8%) presented 13 episodes of acute anterior uveitis; it was not observed statistical association with any variable; one patient presented a single episode of posterior uveitis, associated to toxoplasmosis. Five HLA-B27 positive PsA patients (8%) presented 13 episodes of acute anterior uveitis. All the 26 positive HLA-B27 SPA patients with anterior uveitis tested for the HLA-B27 alleles were HLA-B*2705. No patient presented ophthalmologic severe sequelae of the anterior uveitis. Concluding, anterior uveitis was associated to the juvenile onset of the disease and to the enthesophatic involvement of the lower limbs in AS patients. The HLA-B*2705 allele was predominant in the anterior uveitis patients, whilst posterior uveitis was rare and associated to infectious disease.

Adult-onset Still disease in southeast Brazil.

BACKGROUND: Adult-onset Still disease (AOSD) has been described all over the world. Clinical presentations and prognosis have varied in different studies. OBJECTIVE: The objective of this study was to determine the clinical presentation and the evolution of AOSD at a tertiary referral center in southeast Brazil. METHODS: The clinical records of 16 patients were retrospectively studied to determine symptoms at diagnosis, follow up, and the medication prescribed. RESULTS: The mean age at onset was 30.8 years (range, 24-55 years; standard deviation [SD], 9.2 years) with a slight male prevalence (54.2%). All patients presented constitutional symptoms, fever, and skin rash. Liver involvement was observed in all cases, with hepatomegaly in 81.3%, increased liver enzymes in 50.0%, and hypergammaglobulinemia in 68.8%. Cardiac involvement was observed in 12.6%, pleuritis in 6.3%, and renal involvement in 25.0%. All patients presented leukocytosis with a predominance of neutrophils. Elevated ferritin levels were observed in 56.3%, and these levels were normalized after disease remission. Initial treatments included nonsteroidal antiinflammatory drugs and low-dosage corticosteroids in all patients; 43.8% also needed methotrexate. In 25.0% of cases, a monocyclic disease was observed; others had recurrent episodes. After a follow up of 6.9 years (SD, 1.2 years), carpal ankylosis was the main articular sequel, observed in 53.6% of the patients. CONCLUSION: AOSD is rare in southeast Brazil. Although less severe systemic manifestations, like serositis and pneumonitis, were observed, reversible liver involvement was common; the frequency of recurrent disease and carpal ankylosis was higher than in previous studies.

Hipoparatireoidismo primário manifestando-se com aumento de enzimas musculares / Primary hypoparathyreoidism with raised muscle enzymes

Os autores relatam o caso de um jovem de 18 anos de idade com fraqueza muscular generalizada, cãibras e crises convulsivas, tratado com corticosteróides por oito anos em decorrência de um diagnóstico de polimiosite, sem melhora clínica. Ao exame físico apresentava forca muscular normal, ausência de atrofias musculares, diminuicão de reflexos tendíneos profundos e presenca do sinal de Chvostek e Trousseau. A hipótese diagnóstica inicial foi de miopatia metabólica e a investigacão laboratorial revelou cálcio sérico e urinário diminuídos e dosagem de paratormônio (PTH) indetectável. O diagnóstico final foi de hipoparatireoidismo, tendo sido o paciente tratado com cálcio endovenoso. A tomografia de crânio demonstrou calcificacões difusas, características da síndrome de Fahr. O paciente recebeu alta assintomático com carbonato de cálcio e colecalciferol.

Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases.

Camurati-Engelmann disease is a rare bone disorder characterized by cortical thickening of the diaphysis of tubular bones, with sparing of the epiphysis. It has variable degrees of penetrance and expression, but may be very disabling for the affected individuals who manifest the painful symptoms. The authors report on two women with typical presentation of severe Camurati-Engelmann disease whose treatment with bisphosphonates failed to add any improvement beyond that elicited by corticosteroids alone.

Eficácia sintomática dos insaponificáveis de abacate e soja (IAS)* no tratamento de osteoartrose (OA) de quadril e joelho / Efficacy and tolerability of unsaponifiables of and soy in the treatment of symptomatic hip and knee osteoarthritis

Introdução: A osteoartrose (OA) é uma doença idiopática, multífatorial, caracteriza- da por uma lenta e progressiva degradação da cartilagem articular. Objetivo: Avaliar a eficácia e segurança dos insaponificáveis de abacate e soja (IAS) no tratamento de pacientes com osteoartrose sintomática (OA) do joelho e do quadril. Métodos: Foram incluídos 231 pacientes de ambos os sexos, com idade entre 45 e 75 anos, que apresentavam osteoartrose sintomática de joelho e/ou quadril confirmadas, clínica e radiologicamente, pelos Critérios do Colégio Americano de Reumatologia. Entraram em um estudo aberto, não randomizado, multicentrico, controlado, com um período de tratamento de seis meses. Um intervalo de 15 dias (Washout) para drogas antiinflamatórias não esteroidais (AINEs) precedeu o estudo. A eficácia foi julgada de acordo com: 1) índice Funcional de Lequesne (IFL); e 2) dor na Escala Visual Analógica (EVA; escala de 100 mm)" íngestão de AINElanalgésícos e escore de incapacidade total (pela EVA de 100 mm). Resultados: 231 pacientes receberam os IAS. Os dados de todos os pacientes encontravam-se disponíveis para avaliação no mês 6. A média +/- SEM no escore do IFL diminuiu de 11,88+/-0,24 para 6,84 +/- 0,29 no final de 6 meses (p < 0,001). A dor diminuiu de 6,65+/- 0, 11 mm para 3,21 +/- 0,17 mm (p < 0, 00 1). O consumo de A INES diminuiu de 1,95 +/- 0,10 para 0,67 +/- 0,14 (p <0,001) ao final de 6 meses. A taxa de sucesso foi de 42,3por cento no grupo de IAS ao final de 6 meses. A incapacidade funcional total foi signifícativamente reduzida no grupo IAS. A tolerância foi de boa a excelente para a maioria dos pacientes. Conclusão: Os IAS, neste estudo aberto, controlado e multícêntrico, mostrou ser seguro e eficaz, no controle sintomático da osteoartrose de quadril e de joelho. Estudos mais prolongados, com metodologias mais avançadas, na procura de desvendar seus mecanismos de ação ainda são necessários

Avaliação da pressão venosa periférica na esclerose sistêmica / Peripheral venous pressure in systemic sclerosis

Objetivo: Estabelecer a utilidade da medida indireta da pressão venosa periférica (PVP) na avaliação de pacientes com esclerose sistêmica (ES). comparando com uma população controle normal. Métodos: Estudo prospectivo avaliando 18 pacientes esclerodérmicas do sexo feminino (sendo oito delas com úlcera cutânea isquêmica) submetidas à medida indireta da PVP (por pletismografia). Os dados foram comparados a um grupo controle normal de 18 mulheres hígidas, pareadas para idade. Resultados: Os níveis de pressão arterial foram semelhantes nos dois grupos. Os valores de PVP estavam significativamente diminuídos nos pacientes com ES (58.9 + ou - 11.6 mmHg no grupo ES e 96.9 + ou - 7.1 mmHg no grupo controle; p < 0.0001); no grupo com ES, os pacientes com úlceras cutâneas isquêmicas apresentaram níveis de PVP significativamente diminuídos comparando-se com os pacientes com ES sem úlceras (50.6 + ou - 10.8 mmHg no grupo com úlceras e 65.5 + ou - 7.2 mmHg no grupo sem úlceras; p = 0.006). Conclusões: Pode-se inferir que a diminuição nos níveis de PVP na Es parece estar associada a uma diminuição do fluxo sangüíneo, predispondo ao aparecimento de úlceras isquêmicas nestes pacientes.

Crise renal como manifestação inicial de esclerose sistêmica sine scleroderma / Renal crisis as the initial clinical manifestation in systemic sclerosis sine scleroderma

A esclerose sistêmica (ES) sine scleroderma é uma doença rara, caracterizada pelo acometimento visceral (geralmente gastrintestinal, pulmonar ou vascular periférico) da ES, na ausência da característica fibrose cutânea. Os autores descrevem um caso da rara ocorrência da crise renal esclerodérmica como manifestação inicial em uma paciente com ES sine scleroderma.

Uso do clodronato endovenoso na calcinose difusa em uma criança com síndrome de superposição esclerose sistêmica e dermatomiosite / Use of clodronate in extensive calcinosis in a child with systemic sclerosis and dermatomyositis overlap

Os autores descrevem o caso de uma garota negra, com diagnóstico de síndrome de superposição dermatomiosite e esclerose sistêmica, que desenvolveu calcinose difusa, complicada por infecções secundárias e significativa limitação funcional de membros. Tratamento com colchicina, diltiazem e alendronato sódico não se mostrou eficaz no controle da calcinose, requerendo uso endovenoso bimestral de clodronato, que contribuiu para significativa melhora na cicatrização das úlceras cutâneas e na qualidade de vida.

Disfunção erétil em homens com esclerose sistêmica / Erectile dysfunction in systemic sclerosis

O objetivo deste trabalho é analisar a prevalência da disfunção erétil (DE) e a utilidade do Índice Internacional de Função Erétil (IIFE) na investigação da De em pacientes com esclerose sistêmica (ES). Quinze homens com Es foram questionados acerca dos sintomas da DE e submetidos ao questionário de IIFE. Seus prontuários foram revisados para identificar outras possíveis causas da DE. Os pacientes estudados eram predominantemente caucasóides e tinham ES difusa. DE foi referida por 67 por cento dos pacientes, iniciando-se, em média, 29 meses após o início da ES; quatro pacientes relataram início concomitante da DE e da ES. O diagnóstico da DE pelo IIFE e por interrogação direta foi concordante em todos os pacientes. Não foi encontrada associação nítida entre De e extensão do envolvimento cutâneo, envolvimento visceral, drogas, escore cutâneo total e duração da doença. Cinco pacientes com DE também tinham outras causas de impotência. A DE afeta um grande porcentual de homens acometidos por esclerose sistêmica e o IIFE pode ser um instrumento válido em sua avaliação. A alta incidência da DE em jovens com ES e a eventual concomitância do início da Es e da DE enfatizam a necessidade de estudos posteriores sobre uma provável relação causal.

Doença de Still do adulto: Diagnóstico e evolução / Adult-onset still disease: Diagnosis and evolution

Objetivo: determinar as manifestações clínicas ao diagnóstico e durante a evolução de pacientes com doença de Still do adulto em um hospital universitário terciário. Métodos: foram identificados 13 pacientes com a doença no Ambulatório de Artrites do HC-UNICAMP, estudados retrospectivamente, com atenção aos sintomas no momento do diagnóstico, à evolução do quadro articular e à medicação utilizada. Resultados: a prevalência da doença foi de 4,3 por cento. A média de idade foi de 30,8 anos com predomínio masculino (54,2 por cento). Todos apresentaram sintomas constitucionais, febre e exantema cutâneo ao diagnóstico. Comprometimento hepático em 100 por cento, com hepatomegalia em 11 (84,65 por cento), esplenomegalia em 4 (30,7 por cento), aumento de enzimas hepáticas em 46,1 por cento) e hipergamaglobulinemia em 10 (76,9 por cento) dos pacientes. Envolvimento cardíaco em 2 (15,4 por cento) e pleurite em 1 (7,7 por cento) paciente. Hematúria foi constatada em 4 (30,7 por cento) casos. A manifestação articular inicial foi predominantemente poliarticular em 8 (66,5 por cento). Todods os pacientes apresentaram leucocitose ao diagnóstico, com predomínio de neutrófilos, ocorrendo linfocitose em 7 (53,8 por cento). Ferritina elevada em 9 (69,2 por cento) pacientes e, após a resolução do quadro, ocorreu normalização de todos. Quanto ao tratamento, todos utilizartam antiinflamatórios não-hormonais e doses baixas de corticosteróides; 7 (69,2 por cento) precisaram usar metotrexato. Doença monocíclica em somente 4 (30,7 por cento) pacientes, predominando doença recorrente. Bloqueio articular em 53,8 por cento dos pacientes, predominantemente em punhos. Conclusões: embora rara, a doença de Still do adulto deve ser sempre considerada em pacientes com envolvimento sistêmico e poliartrite, após exclusão de outras doenças, principlamente doenças infecciosas e neoplásicas. O curso da doença de Still do adulto é geralmente crônico e a principal sequela observada neste estudo foi o bloqueio de punhos, em razão de anquilose óssea

Undifferentiated spondyloarthropathies in Brazilians: importance of HLA-B27 and the B7-CREG alleles in characterization and disease progression.

OBJECTIVE: To analyze the profile of the HLA-B27 and B7 cross-reactive group (CREG) alleles and the role of these markers in disease characterization and progression in patients with undifferentiated spondyloarthropathies (uSpA). METHODS: A total of 80 patients with a diagnosis of uSpA (40 HLA-B27 positive and 40 HLA-B27 negative) were prospectively studied for 2 years. The control group consisted of 66 HLA-B27 positive and 112 HLA-B27 negative individuals without a history of seronegative SpA. HLA-B alleles were typed at low (B7-CREG alleles, i.e., B*7, B*54, B*55, B*56, B*40, B*42) or high resolution (B*27 alleles) using polymerase chain reaction-amplified DNA hybridized with sequence-specific oligonucleotide probes. RESULTS: HLA-B*2705 was the most frequent allele, observed in 92.5% of the patients and in 77% of the controls, followed by the HLA-B*2702, observed in 5% of the patients and in 12% of the controls. HLA-B*2704 was observed in only one patient (2.5%), and was absent in the control population. HLA-B*2703 (6%) and HLA-B*2707 (5%) alleles were observed only in controls. No associations between HLA-B*27 alleles or B7-CREG alleles and any specific manifestation of uSpA were observed. HLA-B27 positive patients more frequently presented juvenile onset SpA (p = 0.002) and progression to ankylosing spondylitis (AS) (p = 0.03) than did HLA-B27 negative patients. The B7-CREG alleles were observed in 5% of the HLA-B27 positive uSpA group, in 25% of the HLA-B27 negative uSpA group, in 7% of the HLA-B27 positive controls, and in 13% of the HLA-B27 negative controls; a significant association was observed between the presence of the B7-CREG and the HLA-B27 negative uSpA group (p = 0.012). CONCLUSION: The frequency of the HLA-B*2705 allele among the B27 positive uSpA patients of this series was closely similar to that reported for patients with ankylosing spondylitis (AS). The presence of HLA-B*27 alleles was associated with the progression to AS, and the presence of B7-CREG was associated with uSpA in the HLA-B27 negative group.

Lúpus eritematoso sistêmico e infecçäo no sistema nervoso central: estudo retrospectivo de 350 casos / Systemic lupus erythematosus and central nervous system infection: retrospective study of 350 cases

Objetivos: Avaliar retrospectivamente a frequência da infecçäo no sistema nervoso central (SNC) em pacientes com lúpus eritematoso sistêmico (LES), as formas mais comuns de sua apresentaçäo e o perfil clínico do paciente susceptível. Métodos: Foram avaliados retrospectivamente 350 pacientes com LES, diagnosticados segundo os critérios da ARA, sendo que 16 apresentaram quadro compatível com infecçäo no SNC. Estes pacientes foram avaliados clínica, laboratorial e radiologicamente. Resultados: Dos 350 pacientes, 16 (4,57 por cento) apresentaram infecçäo no SNC, sendo dois casos de neurotoxoplasmose, um caso de neurocriptococose, um caso de abscesso bacteriano e doze casos de meningite. As sintomatologias mais frequentes foram febre, cefaléia, rigidez de nuca, vômitos, convulsöes e papiledema. Em 50 por cento dos casos houve associaçäo de uma ou mais drogas para o tratamento e 75 por cento dos pacientes apresentaram algum tipo de atividade do próprio LES concomitante ao quadro infeccioso. abito ocorreu em 50 por cento dos casos. Conclusäo: A infecçäo do SNC é uma intercorrência relativamente rara, mas de alta mortalidade, sendo a suspeita clínica, o diagnóstico e a terapêutica precoses imperativos para o prognóstico