RESUMEN
We compare cases of familial Mediterranean fever-related protracted febrile myalgia and poststreptococcal myalgia, both rare disorders presenting with fever, myalgia, and inflammatory biomarkers. Although clinical symptoms may be undistinguishable, steroids are usually required in protracted febrile myalgia syndrome and poststreptococcal myalgia most often respond to nonsteroidal anti-inflammatory drugs. Awareness of poststreptococcal myalgia and preceding history may prevent unnecessary tests or overtreatment.
Asunto(s)
Fiebre Mediterránea Familiar , Mialgia , Antiinflamatorios no Esteroideos/uso terapéutico , Fiebre Mediterránea Familiar/complicaciones , Fiebre Mediterránea Familiar/diagnóstico , Fiebre Mediterránea Familiar/tratamiento farmacológico , Fiebre/diagnóstico , Fiebre/tratamiento farmacológico , Fiebre/etiología , Humanos , Mialgia/diagnóstico , Mialgia/etiología , SobretratamientoRESUMEN
Abstract Background: The most important finding that affects the prognosis in Familial Mediterranean Fever is renal amyloidosis. The aim of the present study was to analyze neutrophil gelatinase-associated lipocalin levels in the urine, and to investigate whether it may be used as an early marker for renal involvement. Methods: Forty attack-free children followed by diagnosis of Familial Mediterranean Fever with age range of 5 and 18 years, and 38 healthy children with similar ages and genders were enrolled into the study. Hemogram, sedimentation, C-reactive protein, urine analysis, creatinine in the spot urine, microalbumin and urinary neutrophil gelatinase-associated lipocalin levels were analyzed and evaluated statistically in the patients and controls. Results: There was not any statistically significant difference between the patient and control groups for age, gender, height and body weight. Although there was not any clinical sign of attack in the patient group, sedimentation, C-reactive protein and fibrinogen levels were significantly higher than the control group (p = 0.002, p = 0.023, and p = 0.006, respectively). Similarly, urinary neutrophil gelatinase-associated lipocalin level and urinary creatinine ratio were significantly higher in the patient group (p = 0.0001, p = 0.011, respectively). We found a positive correlation between uNGAL level and uNGAL/uCr ratio and number of attacks per year in FMF patients (r =0.743, p =0.001 and r =0.516, p =0.001; respectively). Conclusions: Detection of significantly higher levels of urinary neutrophil gelatinase-associated lipocalin level and urinary neutrophil gelatinase-associated lipocalin level to creatinine ratio were suggested as urinary neutrophil gelatinase-associated lipocalin level as a non-invasive marker for renal involvement better than microalbumin.
Asunto(s)
Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Fiebre Mediterránea Familiar , Lipocalina 2 , Enfermedades Renales , Fiebre Mediterránea Familiar/diagnóstico , Pronóstico , Biomarcadores/orina , Proyectos Piloto , Lipocalina 2/orina , Enfermedades Renales/orinaRESUMEN
Familial Mediterranean Fever is a hereditary inflammatory disease of predominantly autosomal recessive inheritance, produced by mutations in the MEFV gene that is found on the short arm of chromosome 16, characterized by recurrent episodes of fever accompanied by peritonitis, pleuritis, arthritis or erysipelaslike erythema. An episode lasts from one to three days, and its frequency is very variable. This disease is more frequent among Mediterranean populations, Jews from North Africa (not Ashkenazi), Armenians, Turks and Arabs. However, in recent years more cases have been reported in countries not related to this area. There are no formal studies of epidemiology in Chile. We present the case of one patient of Egyptian/ Jewish ancestry, and the case of a family of German/Spanish ancestry, all Chileans with semiology and characteristic evolution of familial Mediterranean fever and heterozygous positive molecular study. The absence of diagnosis in non-Mediterranean countries may be due to the lack of awareness of this disease. In Chile there has been a rise in cases given by migrants and their offspring, so it is very important to keep in mind as possible diagnosis in case of pain and fever of unknown origin. On the other hand, the familial Mediterranean fever is mainly of autosomal recessive inheritance, but dominant variants have been described. Both cases described in this work present the variant in which the disease manifests itself in its heterozygous form, generating an autosomal dominant inheritance, which would increase the number of affected individuals in the population.
La fiebre mediterránea familiar es un trastorno auto inflamatorio hereditario de herencia predominantemente autosómica recesiva, producida por mutaciones en el gen MEFV que se encuentra en el brazo corto del cromosoma 16, y que se caracteriza por episodios recurrentes de fiebre acompañada de peritonitis, pleuritis, artritis o eritema tipo erisipela. Un episodio dura entre uno y tres días, y su frecuencia es muy variable. Esta enfermedad es más frecuente entre las poblaciones mediterráneas, judíos del norte de África (no ashkenazíes), armenios, turcos y árabes. Sin embargo, en los últimos años se han reportado más casos en países no relacionados con esta área. No hay estudios epidemiológicos formales en Chile. Presentamos el caso de una paciente de ascendencia egipcia/judía, y el caso de una familia de ascendencia alemana/española, todos chilenos con semiología y evolución característica de fiebre mediterránea familiar y estudio molecular positivo heterocigoto. La falta de diagnóstico en países no mediterráneos puede deberse a la falta de conocimiento de esta enfermedad. En Chile han aumentado los casos dado el aumento de migrantes y sus descendientes, por lo que es importante tener este diagnóstico como posibilidad en caso de dolor y fiebre de origen desconocido. Por otro lado, la fiebre mediterránea familiar es principalmente de herencia autosómica recesiva, pero se han descrito variantes dominantes. Los dos casos descritos en este trabajo presentan la variante en la que la enfermedad se manifiesta en su forma heterocigota, generando una herencia autosómica dominante, lo que aumentaría el número de individuos afectados en la población.
Asunto(s)
Humanos , Masculino , Femenino , Niño , Adolescente , Persona de Mediana Edad , Fiebre Mediterránea Familiar/diagnóstico , Fiebre Mediterránea Familiar/genética , Fiebre Mediterránea Familiar/tratamiento farmacológico , Migrantes , Colchicina/uso terapéutico , Predisposición Genética a la Enfermedad , Pirina/genética , HeterocigotoRESUMEN
We reviewed the medical records of patients with periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) to investigate the clinical course, treatment response, and association with MEFV gene mutation. Familial Mediterranean fever should be considered in patients with PFAPA who do not respond to adenotonsillectomy.
Asunto(s)
Adenoidectomía , Fiebre Mediterránea Familiar/diagnóstico , Linfadenitis/diagnóstico , Faringitis/diagnóstico , Pirina/genética , Estomatitis Aftosa/diagnóstico , Tonsilectomía , Niño , Preescolar , Diagnóstico Diferencial , Enfermedades Endémicas , Fiebre Mediterránea Familiar/complicaciones , Fiebre Mediterránea Familiar/epidemiología , Fiebre Mediterránea Familiar/genética , Femenino , Marcadores Genéticos , Heterocigoto , Humanos , Lactante , Linfadenitis/complicaciones , Linfadenitis/epidemiología , Linfadenitis/cirugía , Masculino , Mutación , Faringitis/complicaciones , Faringitis/epidemiología , Faringitis/cirugía , Estudios Retrospectivos , Estomatitis Aftosa/complicaciones , Estomatitis Aftosa/epidemiología , Estomatitis Aftosa/cirugía , Síndrome , Resultado del Tratamiento , Turquía/epidemiologíaRESUMEN
OBJECTIVE: To establish guidelines based on scientific evidence for the management of familial Mediterranean fever. DESCRIPTION OF THE EVIDENCE COLLECTION METHOD: The Guideline was prepared from 5 clinical questions that were structured through PICO (Patient, Intervention or indicator, Comparison and Outcome), to search key primary scientific information databases. After defining the potential studies to support the recommendations, these were graduated considering their strength of evidence and grade of recommendation. RESULTS: 10,341 articles were retrieved and evaluated by title and abstract; from these, 46 articles were selected to support the recommendations. RECOMMENDATIONS: 1. The diagnosis of FMF is based on clinical manifestations, characterized by recurrent febrile episodes associated with abdominal pain, chest or arthritis of large joints. 2. FMF is a genetic disease presenting an autosomal recessive trait, caused by mutation in the MEFV gene. 3. Laboratory tests are not specific, demonstrating high serum levels of inflammatory proteins in the acute phase of the disease, but also often showing high levels even between attacks. SAA serum levels may be especially useful in monitoring the effectiveness of treatment. 4. The therapy of choice is colchicine; this drug has proven its effectiveness in preventing acute inflammatory episodes and progression toward amyloidosis in adults. 5. Based on the available information, the use of biological drugs appears to be an alternative for patients with FMF who do not respond or are intolerant to therapy with colchicine.
Asunto(s)
Amiloidosis Familiar/prevención & control , Colchicina/uso terapéutico , Fiebre Mediterránea Familiar/diagnóstico , Fiebre Mediterránea Familiar/terapia , Guías de Práctica Clínica como Asunto , Pirina/genética , Amiloidosis Familiar/genética , Medicina Basada en la Evidencia , Fiebre Mediterránea Familiar/genética , Humanos , Fenotipo , SíndromeRESUMEN
Resumo Objetivo: Estabelecer diretrizes baseadas em evidências científicas para manejo da febre familiar do Mediterrâneo (FFM). Descrição do método de coleta de evidência: A diretriz foi elaborada a partir de 5 questões clínicas que foram estruturadas por meio do PICO (Paciente, Intervenção ou Indicador, Comparação e Outcome), com busca nas principais bases primárias de informação científica. Após definir os estudos potenciais para sustento das recomendações, esses foram graduados pela força da evidência e pelo grau de recomendação. Resultados: Foram recuperados, e avaliados pelo título e resumo, 10.341 trabalhos e selecionados 46 artigos para sustentar as recomendações. Recomendações: 1. O diagnóstico da FFM é baseado nas manifestações clínicas, caracterizadas por episódios febris recorrentes associados a dor abdominal, torácica ou artrite de grandes articulações; 2. A FFM é uma doença genética que apresenta traço autossômico recessivo ocasionada por mutação no gene MEFV; 3. Exames laboratoriais são inespecíficos e demonstram níveis séricos elevados de proteínas inflamatórias na fase aguda da doença, mas também, com frequência, níveis elevados mesmo entre os ataques. Níveis séricos de SAA podem ser especialmente úteis no monitoramento da eficácia do tratamento; 4. A colchicina é a terapia de escolha e demonstrou eficácia na prevenção dos episódios inflamatórios agudos e progressão para amiloidose em adultos; 5. Com base na informação disponível, o uso de medicamentos biológicos parece ser opção para pacientes com FFM que não respondem ou que são intolerantes à terapia com colchicina.
Abstract Objective: To establish guidelines based on scientific evidence for the management of familial Mediterranean fever. Description of the evidence collection method: The Guideline was prepared from 5 clinical questions that were structured through PICO (Patient, Intervention or indicator, Comparison and Outcome), to search in key primary scientific information databases. After defining the potential studies to support the recommendations, these were graduated considering their strength of evidence and grade of recommendation. Results: 10,341 articles were retrieved and evaluated by title and abstract; from these, 46 articles were selected to support the recommendations. Recommendations: 1. The diagnosis of FMF is based on clinical manifestations, characterized by recurrent febrile episodes associated with abdominal pain, chest or arthritis of large joints; 2. FMF is a genetic disease presenting an autosomal recessive trait, caused by mutation in the MEFV gene; 3. Laboratory tests are not specific, demonstrating high serum levels of inflammatory proteins in the acute phase of the disease, but also often showing high levels even between attacks. SAA serum levels may be especially useful in monitoring the effectiveness of treatment; 4. The therapy of choice is colchicine; this drug has proven effectiveness in preventing acute inflammatory episodes and progression towards amyloidosis in adults; 5. Based on the available information, the use of biological drugs appears to be an alternative for patients with FMF who do not respond or are intolerant to therapy with colchicine.
Asunto(s)
Humanos , Fiebre Mediterránea Familiar/diagnóstico , Fiebre Mediterránea Familiar/terapia , Colchicina/uso terapéutico , Guías de Práctica Clínica como Asunto , Amiloidosis Familiar/prevención & control , Pirina/genética , Fiebre Mediterránea Familiar/genética , Fenotipo , Síndrome , Medicina Basada en la Evidencia , Amiloidosis Familiar/genéticaRESUMEN
The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics centers. A total of 1579 patients were analyzed. Genomic DNA from 304 patients was tested for 6 common mutations located in exon 2 (E148Q), and exon 10 (M680I, M694V, M694I, V726A, R761H) by real-time PCR while 1275 patients were tested for 17 mutations located in exon 2 (E148Q), and exon10 [M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, S675N, G678E, M680L, T681I, M694L, K695M, R717S, I720M, V722M] by pyrosequencing. The most frequent mutation was M694V, followed by M680I, E148Q, and V726A. Ten mutations in the panel were not detected in any patients. Finally, we compared our results with those of other centers in Turkey to contribute to the identified spectrum of Turkish MEFV mutations and we discuss which MEFV mutations are informative for evaluating an FMF patient.
Asunto(s)
Proteínas del Citoesqueleto/genética , Fiebre Mediterránea Familiar/genética , Mutación , Alelos , Análisis Mutacional de ADN/métodos , Fiebre Mediterránea Familiar/diagnóstico , Genotipo , Humanos , Tasa de Mutación , Pirina , TurquíaRESUMEN
http://www.scielo.edu.uy/pdf/ami/v35n3/v35n3a07.pdf
Asunto(s)
Humanos , Masculino , Fiebre Mediterránea Familiar/diagnóstico , Fiebre Mediterránea Familiar/etiología , Fiebre Mediterránea Familiar/terapia , Salud de Grupos Específicos , UruguayRESUMEN
OBJECTIVE: To identify any adverse effects of colchicine in a pediatric patients with familial Mediterranean fever (FMF). STUDY DESIGN: Clinical presentation, Mediterranean fever gene genotype, disease duration, colchicine dose, laboratory tests, and reported adverse effects in children with FMF were analyzed. RESULTS: Of the 153 patients with FMF, 22 (14.4%) developed diarrhea during a follow-up of 4 years; the colchicine dose was reduced to control this symptom in only 4 patients. In 18 (11.8%) patients, a mild transitory increase of transaminases (45-158 IU/L) was found during a follow-up of 1 year. Blood cell counts and kidney function tests were normal in all patients. No correlation was found between the adverse effects and patient's age, disease onset, treatment duration, or any of the clinical characteristics of the disease. CONCLUSION: Colchicine is a safe drug in the treatment of children with FMF, even in infancy. The only significant adverse effects are diarrhea (in a small number of patients), which can be controlled by a decrease in the colchicine dose and transitory elevation of transaminases.
Asunto(s)
Colchicina/efectos adversos , Fiebre Mediterránea Familiar/tratamiento farmacológico , Moduladores de Tubulina/efectos adversos , Adolescente , Factores de Edad , Niño , Preescolar , Colchicina/uso terapéutico , Proteínas del Citoesqueleto/genética , Análisis Mutacional de ADN , Diarrea/inducido químicamente , Relación Dosis-Respuesta a Droga , Esquema de Medicación , Fiebre Mediterránea Familiar/diagnóstico , Fiebre Mediterránea Familiar/genética , Femenino , Estudios de Seguimiento , Marcadores Genéticos , Humanos , Lactante , Masculino , Estudios Prospectivos , Pirina , Sistema de Registros , Factores de Tiempo , Resultado del Tratamiento , Moduladores de Tubulina/uso terapéuticoRESUMEN
OBJECTIVE: To characterize the clinical and genetic features of familial Mediterranean fever (FMF). STUDY DESIGN: Clinical presentation and MEditerranean FeVer mutation type of all patients with FMF, who first manifested the disease at < or =2 years of age were analyzed and compared with patients who first presented with FMF between 2 and 16 years. RESULTS: Of 814 patients with FMF, in 254 patients (31.2%) the first FMF attack was at < or =2 years of age, with a mean age at onset of 1.1 +/- 0.8 years. They were compared with 242 patients who presented with their first manifestation of FMF at 2 to 16 years. The clinical manifestations of FMF were comparable in the 2 patient groups, but the delay of diagnosis was longer in patients with early presentation (3.2 +/- 3.2 years vs.1.9 +/- 2.7 years in the group with onset at 2-16 years, P < .001). A subgroup of patients (60/254), who were diagnosed at < or =2 years had the highest rate of attacks of fever alone as their sole manifestation (40.0% vs 8.4%, P < .05), and less peritonitis (45% vs 86.1%, P < .05) and pleuritis (3.4% vs 32.9%, P < .05). Most of these patients were homozygous for the M694V mutation and were of North African (Sephardic Jewish) extraction. CONCLUSION: In early life, FMF often begins with an atypical presentation, characterized by attacks of fever alone, and its diagnosis and initiation of treatment is therefore significantly delayed.
Asunto(s)
Fiebre Mediterránea Familiar/diagnóstico , Adolescente , Edad de Inicio , Niño , Preescolar , Proteínas del Citoesqueleto/genética , Análisis Mutacional de ADN , Fiebre Mediterránea Familiar/epidemiología , Fiebre Mediterránea Familiar/genética , Femenino , Humanos , Lactante , Masculino , Mutación , Fenotipo , PirinaRESUMEN
Familial Mediterranean Fever (FMF) is an autosomal recessive disorder predominantly affecting people of Mediterranean origin. It is characterized by recurrent episodes of fever and polyserositis of unexplained origin. Most patients with FMF experience their first attack in early childhood with 90% suffering their first bout of pain by the age of 20. We present a case of a 68 years old woman who presented with fevers of 9 months of evolution which culminated with a diagnosis of Familial Mediterranean Fever after successful treatment with Colchicine.
Asunto(s)
Fiebre Mediterránea Familiar/diagnóstico , Anciano , Femenino , Humanos , Factores de TiempoRESUMEN
PFAPA syndrome is characterized by episodes of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. PFAPA syndrome usually begins in children under 5 years old and normally has self-resolution. The etiology of PFAPA syndrome remains unknown. In this paper, we report the cases of two different families with siblings with PFAPA syndrome: two sisters and two brothers. To our knowledge, this is the first report of siblings with PFAPA syndrome.
Asunto(s)
Fiebre Mediterránea Familiar/diagnóstico , Linfadenitis/diagnóstico , Faringitis/diagnóstico , Hermanos , Estomatitis Aftosa/diagnóstico , Niño , Preescolar , Chile , Fiebre Mediterránea Familiar/etiología , Femenino , Humanos , Linfadenitis/etiología , Masculino , Faringitis/etiología , Estomatitis Aftosa/etiología , SíndromeAsunto(s)
Fiebre Mediterránea Familiar/cirugía , Linfadenitis/cirugía , Faringitis/cirugía , Estomatitis Aftosa/cirugía , Tonsilectomía , Fiebre Mediterránea Familiar/diagnóstico , Fiebre Mediterránea Familiar/tratamiento farmacológico , Humanos , Linfadenitis/diagnóstico , Linfadenitis/tratamiento farmacológico , Faringitis/diagnóstico , Faringitis/tratamiento farmacológico , Proyectos de Investigación , Estomatitis Aftosa/diagnóstico , Estomatitis Aftosa/tratamiento farmacológico , SíndromeRESUMEN
INTRODUCTION: Autoinflammatory diseases are very rare diseases presenting within a wide clinical spectrum. Recognition of the main clinical features are challenging due to overlapping or mimicking with autoimmune diseases. DISCUSSION: A case series is reviewed to illustrate typical and atypical features and the difficulties of these diagnoses in the low prevalence areas--a typical unrecognized case of familial Mediterranean fever (FMF) in a youngster, an atypical adult case with overlapping of FMF with Behçet disease, and an early presentation of FMF in infant presenting with inflammatory colitis, as well as the overlapping features within the cryopirin diseases spectrum in an 8-year-old boy who presented with systemic onset arthritis. CONCLUSION: These cases may represent examples of a very puzzling relationship among disorders of innate and adaptive immune systems and inflammation.
Asunto(s)
Enfermedades Autoinmunes/diagnóstico , Proteínas Portadoras/genética , Proteínas del Citoesqueleto/genética , Fiebre Mediterránea Familiar/diagnóstico , Adulto , Artritis/diagnóstico , Artritis/inmunología , Enfermedades Autoinmunes/genética , Enfermedades Autoinmunes/inmunología , Autoinmunidad , Síndrome de Behçet/diagnóstico , Síndrome de Behçet/inmunología , Proteínas Portadoras/inmunología , Niño , Colitis/diagnóstico , Colitis/inmunología , Proteínas del Citoesqueleto/inmunología , Diagnóstico Diferencial , Fiebre Mediterránea Familiar/genética , Fiebre Mediterránea Familiar/inmunología , Femenino , Predisposición Genética a la Enfermedad , Humanos , Inmunidad Innata , Lactante , Inflamación , Masculino , Proteína con Dominio Pirina 3 de la Familia NLR , PirinaAsunto(s)
Abdomen Agudo/etiología , Fiebre Mediterránea Familiar/complicaciones , Reacción de Fase Aguda/etiología , Adulto , Catecolaminas/metabolismo , Colchicina/uso terapéutico , Diagnóstico Diferencial , Errores Diagnósticos , Fiebre Mediterránea Familiar/diagnóstico , Fiebre Mediterránea Familiar/tratamiento farmacológico , Fiebre Mediterránea Familiar/etiología , Fiebre Mediterránea Familiar/metabolismo , Fiebre de Origen Desconocido/etiología , Humanos , Laparotomía , Lisosomas/metabolismo , Masculino , México , Modelos Biológicos , Siria/etnología , Adherencias Tisulares/diagnósticoRESUMEN
La fiebre mediterránea familiar (FMF) es una enfermedad inflamatoria crónica, hereditaria, de herencia autosómica recesiva, causada por mutaciones en el gene denominado MEFV. Se caracteriza por episodios recurrentes de fiebre e inflamación multisistémica. Se trata de una enfermedad frecuente en descendientes de poblaciones mediterráneas, del norte de África, Israel, Turquía, Armenia y países árabes. Se presenta el caso de un paciente, descendiente de armenios, con semiología y evolución características. Se analiza el diagnóstico, pronóstico, tratamiento y el asesoramiento genético correspondiente.(AU)