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Febre mediterrânica familiar : caso clínico e revisão bibliográfica
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Introdução: As Síndromes Periódicas Febris são um conjunto heterogéneo de patologias, cujo denominador comum é a auto-inflamação. A Febre Mediterrânica Familiar (FMF) é a síndrome periódica hereditária mais comum e caracteriza-se por episódios recorrentes de febre e polisserosite. É uma doença autossómica recessiva provocada por mutações no gene MEFV, que codifica a pirina. Atinge sobretudo grupos étnicos da Bacia do Mediterrâneo, nomeadamente Turcos, Judeus, Arménios e Árabes. O diagnóstico é essencialmente clínico, mas em determinadas situações, pode ser auxiliado pelo teste genético. A complicação mais grave é a amiloidose. A terapêutica com colchicina pode, não só prevenir a amiloidose, como diminuir a frequência e a gravidade das crises. Caso clínico: A autora descreve o caso de um rapaz português de 8 anos de idade, previamente saudável, que inicia episódios de febre recorrente, dor abdominal e torácica em intervalos irregulares. Laboratorialmente, destacava-se um aumento dos parâmetros inflamatórios, nomeadamente da Proteína C Reativa, Velocidade de Sedimentação e Fibrinogénio durante as crises. No período intercrítico, manteve-se assintomático, realizando a sua atividade normal. A investigação diagnóstica excluiu causas neoplásicas, infeciosas ou imunológicas, estabelecendo o diagnóstico presuntivo de FMF. Os testes genéticos para a mutação MEFV foram negativos. Assim, iniciou-se prova terapêutica com colchicina. Após seis meses, não houve recorrência dos sintomas. Procede-se à discussão do caso com recurso a uma revisão bibliográfica. Conclusão: As Síndromes Periódicas Febris, particularmente a FMF, são causa de febre recorrente e manifestações sistémicas. Apesar de globalmente rara, a FMF atinge elevada prevalência nos países da bacia do Mediterrâneo. Em Portugal, é provavelmente subdiagnosticada. Neste sentido, é fundamental alertar os clínicos para a sua existência e para os principais dados da anamnese que podem ser sugestivos, aumentando assim o grau de suspeição.
Introduction: Periodic Fever Syndromes are a heterogeneous group of Mendelian disorders classified as auto-inflammatory. Familial Mediterranean Fever (FMF) is the most common autoinflammatory syndrome and is characterized by recurrent attacks of fever associated with polyserositis. FMF results from autosomal recessive mutations in the MEFV gene, encoding pyrin. This disorder occurs mainly among individuals of Mediterranean descent, namely Turkish, Jewish, Armenian and Arabic communities. The diagnosis is based on clinical findings, but genetic tests can also be used to confirm the diagnosis. Amyloidosis is the most important complication. Colchicine is the mainstay of FMF treatment and prevents amyloidosis and the frequency and severity of the episodes. Case Report: The author describes the case of a previously healthy 8-year-old Portuguese boy, who was brought to the hospital for recurrent fever, abdominal and thoracic pain. The laboratory tests showed increased acute phase markers, such as the erythrocyte sedimentation rate (ESR), C-reactive protein and fibrinogen during the attacks. Between the episodes, he was asymptomatic. Neoplastic, infectious and immunologic causes were excluded. We admitted the FMF diagnosis, although the genetic tests were negative. Colchicine was started as a therapeutic trial. The patient remained free of attacks for 6 months. A bibliographic review regarding the discussion of the clinical case was made. Conclusions: Periodic Fever Syndromes, particularly FMF, are cause of recurrent fever and systemic manifestations and can mimic many diseases. Despite being a rare condition worldwide, FMF reaches high prevalence in the Mediterranean area. In Portugal, it is probably underdiagnosed. It is therefore crucial to improve knowledge of these disorders in order to increase the degree of suspicion and diagnosis.
Introduction: Periodic Fever Syndromes are a heterogeneous group of Mendelian disorders classified as auto-inflammatory. Familial Mediterranean Fever (FMF) is the most common autoinflammatory syndrome and is characterized by recurrent attacks of fever associated with polyserositis. FMF results from autosomal recessive mutations in the MEFV gene, encoding pyrin. This disorder occurs mainly among individuals of Mediterranean descent, namely Turkish, Jewish, Armenian and Arabic communities. The diagnosis is based on clinical findings, but genetic tests can also be used to confirm the diagnosis. Amyloidosis is the most important complication. Colchicine is the mainstay of FMF treatment and prevents amyloidosis and the frequency and severity of the episodes. Case Report: The author describes the case of a previously healthy 8-year-old Portuguese boy, who was brought to the hospital for recurrent fever, abdominal and thoracic pain. The laboratory tests showed increased acute phase markers, such as the erythrocyte sedimentation rate (ESR), C-reactive protein and fibrinogen during the attacks. Between the episodes, he was asymptomatic. Neoplastic, infectious and immunologic causes were excluded. We admitted the FMF diagnosis, although the genetic tests were negative. Colchicine was started as a therapeutic trial. The patient remained free of attacks for 6 months. A bibliographic review regarding the discussion of the clinical case was made. Conclusions: Periodic Fever Syndromes, particularly FMF, are cause of recurrent fever and systemic manifestations and can mimic many diseases. Despite being a rare condition worldwide, FMF reaches high prevalence in the Mediterranean area. In Portugal, it is probably underdiagnosed. It is therefore crucial to improve knowledge of these disorders in order to increase the degree of suspicion and diagnosis.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2017
Palavras-chave
Febre mediterrânica familiar Síndromes periódicas febris Autoinflamação Pediatria