RESUMEN
OBJECTIVE: African-Brazilians comprise a group of blacks and "pardos." As racial differences can be associated with distinct presentations, we evaluated the clinical and serological associations of African-Brazilians with systemic sclerosis (SSc). METHODS: Sera from 260 adult SSc patients (203 whites and 57 African-Brazilians) were evaluated. Patients with overlap syndromes were excluded. Clinical and demographic data were obtained from an electronic register database. Laboratory analysis included the following: anti-CENP-A/CENP-B, Scl70, RNA polymerase III, Ku, fibrillarin, Th/To, PM-Scl75, and PM-Scl100 by line immunoassay and anti-nuclear antibodies (ANA) by indirect immunofluorescence (IIF) on HEp-2 cells. RESULTS: African-Brazilian SSc patients presented shorter disease duration (12.8 ± 6.5 vs. 15.9 ± 8.1 years, p = 0.009), higher frequency of nucleolar ANA pattern (28% vs. 13%, p = 0.008), and lower frequencies of centromeric ANA pattern (14% vs. 29%, p = 0.026) and CENP-B (18% vs. 34%, p = 0.017), as well as an association with severe interstitial lung disease (58% vs. 43%; p = 0.044). Further comparison of ethnic groups according to subsets revealed that diffuse SSc African-Brazilian patients presented higher frequency of pulmonary hypertension (p = 0.017), heart involvement (p = 0.037), nucleolar ANA pattern (p = 0.036), anti-fibrillarin antibodies (p = 0.037), and higher mortality (48% vs. 19%; p = 0.009). A different pattern was observed for the limited subset with solely a lower frequency of esophageal involvement (p = 0.050) and centromeric ANA pattern (p = 0.049). Survival analysis showed that African-Brazilians had a higher mortality, when adjusted for age, gender, and clinical subset (RR 2.06, CI 95% 1.10-3.83, p = 0.023). CONCLUSION: African-Brazilians have distinct characteristics according to clinical subset and an overall more severe SSc than whites, similar to the blacks from other countries.Key Points ⢠African-Brazilian SSc patients were associated with severe interstitial lung disease and nucleolar ANA pattern when compared to white SSc patients. ⢠When disease subsets were considered, African-Brazilian patients with diffuse SSc presented association with pulmonary hypertension, heart involvement, nucleolar ANA pattern, and anti-fibrillarin antibodies. ⢠White SSc patients were associated with centromeric ANA pattern. ⢠Survival analysis at 5, 10, 15, and 20 years, adjusted for age, gender, and disease subset, was significantly worse in African-Brazilian SSc patients.
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Anticuerpos Antinucleares/sangre , Población Negra , Enfermedades Pulmonares Intersticiales/epidemiología , Esclerodermia Sistémica/etnología , Esclerodermia Sistémica/inmunología , Adulto , Brasil/epidemiología , Femenino , Técnica del Anticuerpo Fluorescente Indirecta , Humanos , Inmunoensayo , Masculino , Persona de Mediana Edad , Esclerodermia Sistémica/mortalidad , Análisis de Supervivencia , Población BlancaRESUMEN
Calcinosis is a frequent complication of systemic sclerosis (SSc) that is usually located in extremities but may occur across the board. The aim of our study was to identify and quantify the distribution of calcinosis in a cohort of Mexican patients with SSc and its association with clinical features and autoantibodies. A cohort of patients with SSc (2013 ACR/EULAR criteria), classified in diffuse cutaneous (dcSSc) and limited cutaneous (lcSSc) (Le Roy criteria), was studied. For their analysis, patients were allocated into those with and without calcinosis (clinical and/or radiological). The evaluation included the modified Rodnan scale for skin and Medsger disease severity scale (DSS). Calcium, phosphorus, vitamin D, and parathyroid hormone (PTH) and antinuclear antibodies and extractable nuclear antigens were determined in serum. A total of 109 patients were included, 41 (37 %) with and 68 (63 %) without calcinosis. Calcinosis was more frequent in patients with dcSSc (55 vs 27 %). In total, we identified 354 sites with calcinosis and mean per patient of 12.0 ± 9.1; the most common sites affected were the hands (83 %), proximal upper extremity (27 %), and proximal lower extremity (22 %). Patients with calcinosis had a higher score of Rodnan scale, Mesdger DSS, and frequency of anti-nucleolar and anti-Scl-70 antibodies compared to those without calcinosis. Abnormal PTH elevation was found in 35 % of patients with calcinosis and 23 % without it. The prevalence of calcinosis is high in Mexican patients with SSc, especially in diffuse variety, and is associated with increased severity of disease.
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Calcinosis/sangre , Calcinosis/diagnóstico por imagen , Esclerodermia Sistémica/sangre , Esclerodermia Sistémica/diagnóstico por imagen , Adulto , Anticuerpos Antinucleares/sangre , Calcinosis/complicaciones , Calcinosis/etnología , Calcio/sangre , Femenino , Células Hep G2 , Humanos , Masculino , México , Persona de Mediana Edad , Análisis Multivariante , Hormona Paratiroidea/sangre , Fósforo/sangre , Prevalencia , Estudios Prospectivos , Esclerodermia Sistémica/complicaciones , Esclerodermia Sistémica/etnología , Vitamina D/sangreRESUMEN
BACKGROUND: The medical treatment of ischemic ulcers in patients with systemic sclerosis remains difficult. Despite the major help provided by vasodilator treatments, the risk of spontaneous or surgical amputation remains high. OBSERVATION: A 48-year-old female patient from Guadeloupe was treated in our department for diffuse systemic sclerosis present for 15 years complicated by lung, joint and digestive involvement, and associated with severe Raynaud's phenomenon. The clinical course was marked by the occurrence of multiple ischemic ulcers, which were resistant to conventional medical treatment and resulted in two surgical amputations (to the 2nd and 3rd interphalangeal joints of the toes of the left foot). Treatment with an endothelin-receptor antagonist and a calcium inhibitor was then introduced for secondary prevention. Two years later, the patient consulted for a further ischemic ulcer of the left 4th toe. She refused the proposed treatment with iloprost. Because of the unfavorable outcome and the absence of therapeutic alternative to amputation, hyperbaric oxygen therapy was initiated. Thirty 90-minutes sessions of pure oxygen at 2.5 ATA were conducted over a 10-week period. Complete healing was obtained after 8 months. DISCUSSION: We report herein a clinical case illustrating the efficacy of hyperbaric oxygen therapy for the treatment of ischemic ulcers of the toes in systemic sclerosis. It could offer an alternative therapeutic option, in particular for patients presenting resistant ischemic ulcers and a contraindication for or intolerance to the conventional medical treatment.
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Oxigenoterapia Hiperbárica , Esclerodermia Sistémica/etnología , Úlcera/etnología , Femenino , Guadalupe/etnología , Humanos , Oxigenoterapia Hiperbárica/métodos , Persona de Mediana Edad , Esclerodermia Sistémica/complicaciones , Dedos del Pie/irrigación sanguínea , Úlcera/etiología , Úlcera/terapia , Cicatrización de HeridasRESUMEN
BACKGROUND: Systemic sclerosis (scleroderma) is an infrequent disease. Data on incidence and prevalence are scarce and conflictive. There are no such data in Latin America or in Argentina in particular. OBJECTIVES: We undertook to examine the incidence and prevalence of systemic sclerosis in the prepaid health maintenance organization of our hospital, in the city of Buenos Aires. METHODS: Members of the plan between 1999 and 2004 were followed up for incident cases, and prevalence was calculated at the end of the period. RESULTS: A total of 98,642 persons were followed up for a total of 32,9534 person-years. Density of incidence overall was 21.2 per million person-years (95% confidence interval [CI], 5.4-37). Density of incidence for diffuse disease was 6.1 per million person-years (95% CI, 2.3-14.5), and for limited disease, it was 15.2 per million person-years (95% CI, 2-28). Prevalence was 296 per million people (95% CI, 193-434); females, 477 per million people (95% CI, 309-704); and males, 28 per million people (95% CI, 7-157). Prevalence for diffuse disease was 57 per million people (95% CI, 18-133), and for limited disease, it was 240 per million people (95% CI, 148-365). CONCLUSIONS: Despite potential biases, these data are in agreement with others from different parts of the world and the first obtained in Argentina and, to our knowledge, in Latin America.
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Atención a la Salud/estadística & datos numéricos , Esclerodermia Sistémica/etnología , Esclerodermia Sistémica/epidemiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Argentina/epidemiología , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Factores Sexuales , Factores Socioeconómicos , Adulto JovenRESUMEN
INTRODUCTION: Systemic sclerosis is an autoimmune disease of unknown etiology characterized by fibrotic changes in the skin, blood vessels, and various internal organs. The disease has a wide spectrum of presentation and a variable clinical course that includes limited skin involvement to life-threatening disease. Clinical manifestations and disease severity differs among ethnic groups. The objective of this study is to describe the clinical and sociodemographic features of patients with well-characterized systemic sclerosis from Puerto Rico. METHODS: A structured questionnaire was completed for each patient to gather information about demographic factors, clinical manifestations, laboratory findings, diagnostic studies, and pharmacologic treatments. RESULTS: Of the 24 patients with systemic sclerosis, 96% were females, 83% had Raynaud's phenomenon, 67% had gastrointestinal involvement, 63% had skin hypopigmentation, 50% had digital pitting scars, 46% had arterial hypertension, 11% had pulmonary hypertension, and 4.8% had renal involvement. The overall median modified Rodnan skin score was 24.5 (inter-quartile range 16.0-31.3). Pulmonary function tests resulted in abnormal in 60% of 14 patients, of which 57% had restrictive lung disease (FVC < 70%) and 42.9% had decreased diffusion capacity. Serologically, 66.7% were positive for antinuclear antibody and 62.5% were positive for anti-centromere. CONCLUSIONS: In this study, the predominant clinical features of Puerto Ricans with systemic sclerosis were gastrointestinal involvement, Raynaud's phenomenon, digital pitting scars, and lung disease. Patients had a moderate severity of skin disease. The presence of renal involvement and pulmonary hypertension were low in our group. No significant differences were found between systemic sclerosis disease subsets.
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Esclerodermia Sistémica/diagnóstico , Esclerodermia Sistémica/etnología , Adulto , Estudios Transversales , Femenino , Humanos , Enfermedades Pulmonares/etiología , Masculino , Persona de Mediana Edad , Puerto Rico/epidemiología , Enfermedad de Raynaud/etiología , Pruebas de Función Respiratoria , Esclerodermia Sistémica/complicaciones , Esclerodermia Sistémica/fisiopatologíaRESUMEN
OBJECTIVE: To assess the clinical and selected demographic features of patients with systemic sclerosis (SS) seen over a 10-year period at the Rheumatology service of the Queen Elizabeth Hospital, Barbados. To compare these data with what is known to obtain in other ethnic populations. DESIGN AND METHODS: A chart review involving all patients who were found to have SS based on the American College of Rheumatology clinical criteria was conducted between 1996 and 2006. RESULTS: Twenty-seven patients with SS were identified in this predominantly Afro-Caribbean population. The prevalent and incident cases numbered 10 and 17 respectively. Twenty-six of these patients were female and the mean age at diagnosis was 37.3 years. Diffuse cutaneous involvement was seen in 63% of cases and limited cutaneous involvement in 37%. The most common clinical features in descending order of frequency were Raynaud's phenomenon, gastroesophageal reflux, pigmentary skin changes, digital pitting/ulceration, telangiectasia and pulmonary disease. CONCLUSION: In a predominantly Afro-Caribbean population, SS was uncommonly seen, had a marked female preponderance and an earlier age of onset than that seen in Caucasian populations. As expected, diffuse disease was the more common subtype and digital pitting, pigmentary skin changes, and pulmonary disease were amongst the most frequent clinical features. Telangiectasia were found more frequently than the literature suggests is typical for patients of African descent.
OBJETIVO: Evaluar los rasgos clínicos y las características demográficas seleccionadas de pacientes con esclerosis sistémica (ES) atendidos por un periodo de 10 años en el Servicio de Reumatolog?ía del Hospital Queen Elizabeth Hospital, Barbados. Comparar estos datos con lo que se conoce que existe en otras poblaciones étnicas. DISEÑO Y MÉTODOS: Entre 1996 y 2006, se llevó a cabo una revisión de historias clínicas, la cual abarcó a todos los pacientes a quienes se les diagnosticó ES, sobre la base de los criterios clínicos del Colegio Americano de Reumatología. RESULTADOS: Se identificaron veintisiete pacientes con ES en esta población predominantemente afrocaribeña. Los casos prevalentes e incidentes ascendieron a 10 y 17 respectivamente. Veintiséis de estos pacientes fueron hembras y la edad promedio en el momento del diagnóstico fue 37.3 años. En 63% de los casos se observó compromiso cutáneo difuso, en tanto que en el 37% se observó compromiso cutáneo limitado. Los rasgos clínicos más comunes en orden descendente de frecuencia fueron el fenómeno de Raynaud, el reflujo gastroesofágico, cambios de pigmentación de la piel, ulceración digital, telangiectasia y enfermedad pulmonar.
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Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Población Negra , Esclerodermia Sistémica/etnología , Barbados/epidemiología , Incidencia , Prevalencia , Esclerodermia Sistémica/fisiopatologíaRESUMEN
OBJECTIVE: To assess the clinical and selected demographic features of patients with systemic sclerosis (SS) seen over a 10-year period at the Rheumatology service of the Queen Elizabeth Hospital, Barbados. To compare these data with what is known to obtain in other ethnic populations. DESIGN AND METHODS: A chart review involving all patients who were found to have SS based on the American College of Rheumatology clinical criteria was conducted between 1996 and 2006. RESULTS: Twenty-seven patients with SS were identified in this predominantly Afro-Caribbean population. The prevalent and incident cases numbered 10 and 17 respectively. Twenty-six of these patients were female and the mean age at diagnosis was 37.3 years. Diffuse cutaneous involvement was seen in 63% of cases and limited cutaneous involvement in 37%. The most common clinical features in descending order of frequency were Raynaud's phenomenon, gastroesophageal reflux, pigmentary skin changes, digital pitting/ulceration, telangiectasia and pulmonary disease. CONCLUSION: In a predominantly Afro-Caribbean population, SS was uncommonly seen, had a marked female preponderance and an earlier age of onset than that seen in Caucasian populations. As expected, diffuse disease was the more common subtype and digital pitting, pigmentary skin changes, and pulmonary disease were amongst the most frequent clinical features. Telangiectasia were found more frequently than the literature suggests is typical for patients of African descent.
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Población Negra , Esclerodermia Sistémica/etnología , Adolescente , Adulto , Barbados/epidemiología , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Prevalencia , Esclerodermia Sistémica/fisiopatología , Adulto JovenRESUMEN
OBJECTIVE: To study serum levels of Class I soluble HLA (sHLA-I) in patients with systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), polymyositis or dermatomyositis (PM/DM) or scleroderma and to assess the possible influence of ethnic factors on concentration in each disease group. METHODS: Solid-phase enzyme linked immunoassay was used to measure sHLA-I in the serum of 385 patients with varied ethnic backgrounds (American-Caucasians, African-Americans, Georgian-Caucasians) with rheumatic diseases. Studies on patients were compared to similar measurements of 189 healthy individuals. RESULTS: Mean sHLA-I levels were significantly higher in patients with SLE than those observed in healthy individuals or other rheumatic diseases. Highest concentrations were present in Georgian-Caucasian patients with SLE. American-Caucasian patients with RA or scleroderma had higher sHLA-I levels than normal Caucasian individuals. The majority of patients with PM/DM in all ethnic subgroups were low secretors of sHLA-I. CONCLUSION: Mechanisms underlying the secretion of sHLA-I appear to differ among the rheumatic diseases studied and various ethnic groups. These genetic differences in sHLA-I secretion could be associated with ethnic and pathophysiologic differences among these rheumatic diseases.
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Antígenos HLA/sangre , Antígenos de Histocompatibilidad Clase I/sangre , Enfermedades Reumáticas/etnología , Enfermedades Reumáticas/inmunología , Artritis Reumatoide/sangre , Artritis Reumatoide/etnología , Artritis Reumatoide/inmunología , Población Negra , Georgia (República) , Humanos , Louisiana , Lupus Eritematoso Sistémico/sangre , Lupus Eritematoso Sistémico/etnología , Lupus Eritematoso Sistémico/inmunología , Miositis/sangre , Miositis/etnología , Miositis/inmunología , Enfermedades Reumáticas/sangre , Esclerodermia Sistémica/sangre , Esclerodermia Sistémica/etnología , Esclerodermia Sistémica/inmunología , Solubilidad , Indias Occidentales/etnología , Población BlancaRESUMEN
OBJECTIVE: To study the association between Major Histocompatibility Complex (MHC) haplotypes and systemic sclerosis (SSc) in Mexican mestizo patients. METHODS: Class I, II and III MHC antigens were determined in 41 Mexican mestizo patients with SSc, 113 of their first degree relatives, and 85 ethnically matched controls. The significance of differences between patients and controls was tested by chi-square analysis with Yates' correction. RESULTS: Frequencies of HLA-DR5 and HLA-DRw52 were found to be higher in SSc patients compared to ethnically matched healthy controls (p = 0.007, RR = 3.31; 95% confidence interval: 1.3-8.3 and p = 0.04, RR = 2.4; 95% confidence interval: 1.0-5.7, respectively). Sequence-specific oligotyping in DR5 positive individuals showed that 10 out of 41 patients had the DRB1*1104 subtype (24.3%) as compared to only 6 of the 85 healthy controls (7.0%) (p = 0.01, RR = 4.25). Subdividing patients according to their clinical features showed a significant increase of HLA-DR5 in diffuse (p = 0.013, RR = 3.89, 95% confidence interval: 1.27-12.0) and limited scleroderma (p = 0.0008), but not in the CREST syndrome. Segregation analysis obtained from the families showed that in the patients, DR5 was mostly part of the [HLAB35;DR5] haplotype as opposed to healthy controls. CONCLUSION: These data support the role of DR5 (DRB1*1104) in the genetic susceptibility to develop scleroderma in Mexican patients and also sustain the notion of genetically determined clinical subgroups of SSc.