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1.
Rev. med. Chile ; 150(6): 705-710, jun. 2022. tab, ilus
Artículo en Español | LILACS | ID: biblio-1424121

RESUMEN

BACKGROUND: IgG4-related disease (IgG4 RD) is an immune-mediated fibro-inflammatory disorder, with tissue infiltration of IgG4+ plasma cells. It causes pseudotumors, tumors, and a wide spectrum of clinical manifestations. AIM: To report the clinical, laboratory, histopathological and treatment characteristics of a group of Chilean patients with IgG4 RD. MATERIAL AND METHODS: Review of medical records of 52 patients aged 18 to 76 years with IgG4 RD seen at six medical centers. RESULTS: Elevated IgG4 serum levels (> 135 mg/dl) were found in 18 of 44 (41%) patients. There was histological confirmation of the disease in 46 patients. The most common sites of involvement were lungs, eyes and kidneys. Eighteen (35%) patients had only one organ involved, 34 (65%) patients had two organs and 13 (25%) patients had three or more organs. The involvement of two organs was significantly more common in men (p < 0.05). In patients with only one organ involvement, the most frequent location was orbital and meningeal. All patients with kidney or lung disease had multiorgan involvement. All patients received corticosteroid therapy, 67% synthetic immunosuppressants, and 16% rituximab. CONCLUSIONS: ER-IgG4 can affect any tissue. Multiorgan involvement was more common in this series, with preference for lungs, eyes and kidneys. An excellent response to steroids is characteristic of the disease, but with a high relapse rate that requires additional immunosuppression.


Asunto(s)
Humanos , Masculino , Enfermedades Autoinmunes/tratamiento farmacológico , Enfermedad Relacionada con Inmunoglobulina G4/diagnóstico , Enfermedad Relacionada con Inmunoglobulina G4/tratamiento farmacológico , Inmunoglobulina G , Rituximab/uso terapéutico , Inmunosupresores/uso terapéutico , Riñón/patología
2.
Rev Med Chil ; 150(6): 705-710, 2022 Jun.
Artículo en Español | MEDLINE | ID: mdl-37906904

RESUMEN

BACKGROUND: IgG4-related disease (IgG4 RD) is an immune-mediated fibro-inflammatory disorder, with tissue infiltration of IgG4+ plasma cells. It causes pseudotumors, tumors, and a wide spectrum of clinical manifestations. AIM: To report the clinical, laboratory, histopathological and treatment characteristics of a group of Chilean patients with IgG4 RD. MATERIAL AND METHODS: Review of medical records of 52 patients aged 18 to 76 years with IgG4 RD seen at six medical centers. RESULTS: Elevated IgG4 serum levels (> 135 mg/dl) were found in 18 of 44 (41%) patients. There was histological confirmation of the disease in 46 patients. The most common sites of involvement were lungs, eyes and kidneys. Eighteen (35%) patients had only one organ involved, 34 (65%) patients had two organs and 13 (25%) patients had three or more organs. The involvement of two organs was significantly more common in men (p < 0.05). In patients with only one organ involvement, the most frequent location was orbital and meningeal. All patients with kidney or lung disease had multiorgan involvement. All patients received corticosteroid therapy, 67% synthetic immunosuppressants, and 16% rituximab. CONCLUSIONS: ER-IgG4 can affect any tissue. Multiorgan involvement was more common in this series, with preference for lungs, eyes and kidneys. An excellent response to steroids is characteristic of the disease, but with a high relapse rate that requires additional immunosuppression.


Asunto(s)
Enfermedades Autoinmunes , Enfermedad Relacionada con Inmunoglobulina G4 , Masculino , Humanos , Enfermedad Relacionada con Inmunoglobulina G4/diagnóstico , Enfermedad Relacionada con Inmunoglobulina G4/tratamiento farmacológico , Inmunosupresores/uso terapéutico , Inmunoglobulina G , Rituximab/uso terapéutico , Riñón/patología , Enfermedades Autoinmunes/tratamiento farmacológico
3.
Clin Rheumatol ; 40(4): 1581-1591, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32840702

RESUMEN

BACKGROUND: Rheumatic diseases are a reason for frequent consultation with primary care doctors. Unfortunately, there is a high percentage of misdiagnosis. OBJECTIVE: To design an algorithm to be used by primary care physicians to improve the diagnostic approach of the patient with joint pain, and thus improve the diagnostic capacity in four rheumatic diseases. METHODS: Based on the information obtained from a literature review, we identified the main symptoms, signs, and paraclinical tests related to the diagnosis of rheumatoid arthritis, spondyloarthritis with peripheral involvement, systemic lupus erythematosus with joint involvement, and osteoarthritis. We conducted 3 consultations with a group of expert rheumatologists, using the Delphi technique, to design a diagnostic algorithm that has as a starting point "joint pain" as a common symptom for the four diseases. RESULTS: Thirty-nine rheumatologists from 18 countries of Ibero-America participated in the Delphi exercise. In the first consultation, we presented 94 items to the experts (35 symptoms, 31 signs, and 28 paraclinical tests) candidates to be part of the algorithm; 74 items (25 symptoms, 27 signs, and 22 paraclinical tests) were chosen. In the second consultation, the decision nodes of the algorithm were chosen, and in the third, its final structure was defined. The Delphi exercise lasted 8 months; 100% of the experts participated in the three consultations. CONCLUSION: We present an algorithm designed through an international consensus of experts, in which Delphi methodology was used, to support primary care physicians in the clinical approach to patients with joint pain. Key Points • We developed an algorithm with the participation of rheumatologists from 18 countries of Ibero-America, which gives a global vision of the clinical context of the patient with joint pain. • We integrated four rheumatic diseases into one tool with one common symptom: joint pain. It is a novel tool, as it is the first algorithm that will support the primary care physician in the consideration of four different rheumatic diseases. • It will improve the correct diagnosis and reduce the number of paraclinical tests requested by primary care physicians, in the management of patients with joint pain. This point was verified in a recently published study in the journal Rheumatology International (reference number 31).


Asunto(s)
Enfermedades Reumáticas , Reumatología , Algoritmos , Artralgia/diagnóstico , Humanos , Enfermedades Reumáticas/complicaciones , Enfermedades Reumáticas/diagnóstico , Reumatólogos
4.
Clin Rheumatol ; 36(12): 2789-2797, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29098475

RESUMEN

Health education is fundamental in the management of RA patients. This study explored patient needs for educational material appropriate for RA patients in our region through a website. This study includes seven focus groups and semi-structured interviews across 4 countries (Argentina, Chile, Colombia, and Mexico) with 71 RA patients. Transcripts were analyzed by anthropologists using qualitative analysis (QA), resulting in themes and subthemes to be developed. Five themes and over 50 subthemes of interest were identified by patients. Grouped into categories as follows: (1) knowing the disease, (2) living with arthritis, (3) treatment and therapies for RA, (4) psychosocial support, and (5) information for families. A response was written by the team in plain Spanish on patient subthemes of interest including additional areas that the team considered relevant. Three videos for YouTube were produced: on patient-doctor relationships, patients at work, and home and at the clinic. Illustrations in a comic book format on RA diagnosis were created. The educational site on RA of PANLAR can be found at htpp://artritisreumatoide.cl. This project accomplished a comprehensive list of RA patient interests, revealing the complex relationship between the information on the disease, the experience of a chronic disease, and the way in which patients approach, conceive, and manage their disease. We expect to gather information on how the website will be used in the future for patients and their families and maintain and improve the website as well as adapt its content to different socioeconomic realities.


Asunto(s)
Artritis Reumatoide/terapia , Manejo de la Enfermedad , Educación en Salud , Internet , Educación del Paciente como Asunto , Antirreumáticos/uso terapéutico , Artritis Reumatoide/diagnóstico , Región del Caribe , Humanos , América Latina
5.
Rev. chil. reumatol ; 33(4): 157-164, 2017. ilus, tab
Artículo en Español | LILACS | ID: biblio-1254074

RESUMEN

La artritis reumatoide (AR) es una enfermedad sistémica crónica y autoinmune, que afecta principalmente a las articulaciones sinoviales. Al igual que ocurre con muchas enfermedades autoinmunes, la etiología de la AR es multifactorial y desconocida. La susceptibilidad genética es evidente en AR, situando su heredabilidad en aproxima-damente el 60%. La importancia del conocimiento de los factores genéticos asociados con la AR se sitúa en la contribución a la comprensión de los mecanismos patogénicos de la enfermedad, así como a su aplicación clínica que nos acerque a un tratamiento más personalizado de los pacientes por medio de marcadores de riesgo, diagnóstico y/o pronóstico. En este artículo se revisan los factores genéticos de la AR, y se hace una aproximación a la situación en poblaciones latinoamericanas en general, y chile-na en particular.


Rheumatoid arthritis (RA) is an autoimmune inflammatory rheumatic disease that affects many tissues and organs, mainly synovial joints. Like many autoimmune dis-eases, the etiology of RA is multifactorial and unknown. Genetic susceptibility is evi-dent in RA, with its heritability around the 60%.The relevance of the knowledge of the genetic factors associated with RA relies on its contribution to the understanding of the pathological mechanisms of the disease, and the clinical applicability. This better understanding let us develop a more personalized treatment through genetic markers for risk, diagnostic and prognostic. In this paper, genetic factors of RA are reviewed and a general view of the Latin American populations, and particularly Chilean, is made.


Asunto(s)
Humanos , Artritis Reumatoide/genética , Predisposición Genética a la Enfermedad , Enfermedades Autoinmunes , Variación Genética , Etnicidad , Chile/epidemiología , Estudios de Asociación Genética
6.
Clin Rheumatol ; 31(5): 829-34, 2012 May.
Artículo en Inglés | MEDLINE | ID: mdl-22281876

RESUMEN

Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1-35) and 8 years (range 0.3-21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5-15) for FMF and 21 days (range 9.5-30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G→A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G→A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations.


Asunto(s)
Proteínas del Citoesqueleto/genética , Fiebre Mediterránea Familiar , Predisposición Genética a la Enfermedad , Mutación Missense , Receptores Tipo I de Factores de Necrosis Tumoral/genética , Adolescente , Adulto , Niño , Preescolar , Chile/epidemiología , Análisis Mutacional de ADN , Fiebre Mediterránea Familiar/epidemiología , Fiebre Mediterránea Familiar/genética , Fiebre Mediterránea Familiar/patología , Femenino , Humanos , Lactante , Masculino , Pirina , Recurrencia , Estudios Retrospectivos , Adulto Joven
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