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Abstract(s)
Introdução: As síndromes autoinflamatórias (SAI) são um grupo crescente de distúrbios heterógeneos caracterizados por episódios de inflamação sistémica recorrente. As SAI são causadas pela desregulação do sistema imunitário inato (ao invés do sistema imunitário adaptativo) que desencadeia uma ativação aberrante do inflamassoma, com consequente produção exagerada de citocinas pró-inflamatórias como a IL-1ß e o TNF-a. Estas condições manifestam-se por episódios de febre periódica associados a manifestações inflamatórias da pele, das membranas serosas, dos olhos, das articulações, do tracto gastrointestinal e do sistema nervoso. A maioria destas síndromes tem um início na infância, nos primeiros anos de vida, mas em alguns casos, e em particular na Febre Mediterrânica Familiar e na síndrome periódica associada ao receptor TNF, estão descritos casos de início na idade adulta.
A amiloidose AA é a complicação mais grave e a que maior impacto tem no prognóstico das síndromes autoinflamatórias. Desta forma, pacientes diagnosticados com SAI necessitam de acompanhamento clínico contínuo, com monitorização regular dos níveis séricos de amiloide A, mesmo durante os períodos assintomáticos. Este seguimento apertado é necessário não só para prevenir ou mesmo tratar de imediato um potencial desenvolvimento de amiloidose reactiva, mas também para avaliar a eficácia da terapêutica.
Do ponto de vista terapêutico, a colchicina é o tratamento padrão da febre Mediterrânica familiar, enquanto que os anti-inflamatórios não esteroides e corticoesteróides são usados maioritariamente, com resultados variáveis, para alívio sintomático durante os períodos de crise das distintas SAI. A introdução de agentes biológicos tais como os antagonistas do TNF e da IL-1 revolucionaram o tratamento de algumas destas síndromes com potencial, inclusivé, de reversão de amiloidose já estabelecida.
Objectivos: O propósito desta dissertação é a descrição dos principais aspectos fisiopatológicos, genéticos, clínicos e terapêuticos das síndromes autoinflamatórias. São também apresentados e discutidos três casos clínicos de síndrome periódica associado ao receptor do TNF (TRAPS) diagnosticados no Centro Hospitalar Cova da Beira de forma a dar uma visão mais prática da realidade descrita. O objetivo final é aumentar o conhecimento e a consciencialização sobre as doenças autoinflamatórias entre os profissionais de saúde e, assim, potencialmente melhorar a prestação de cuidados.
Métodos: Trata-se de um estudo retrospectivo e descritivo cuja população-alvo será constituída por dois pacientes com o diagnóstico de TRAPS. Os dados acerca dos doentes foram obtidos por análise dos processos clínicos fornecidos pelos Serviços de Reumatologia e de Pediatria do Centro Hospitalar Cova da Beira, EPE, com a devida autorização superior. O anonimato dos doentes foi mantido ao longo do texto, no sentido de preservar a confidencialidade. A revisão da literatura foi fundamentada na pesquisa em base de dados nomeadamente PubMed, UpToDate, Medscape e SciELO. A pesquisa foi efetuada com os termos “autoinflamatory syndromes”, “periodic fever syndromes”, “inflamassome”, “TNF receptor-associated autoinflamatory syndrome”, “TRAPS”, "Familial Hibernian Fever", “Familial mediterranean fever”, ”amyloidosis”, “TNF Blocker”. Foram também consultados dados do registo europeu EUROFEVER/EUROTRAPS.
Conclusão: Devido à raridade destas condições poder conduzir a atrasos e a erros de diagnóstico, é pertinente promover a consciencialização dos clínicos, nomeadamente dos pediatras, para o reconhecimento precoce destes distúrbios.
Introduction: Autoinflammatory syndromes (AIS) are a growing cluster of heterogeneous disorders characterized by recurrent systemic inflammation episodes. AIS are caused by innate immune system dysregulation (instead of the adaptive immune system) leading to aberrant inflammasome activation, with subsequent exaggerated production of proinflammatory cytokines such as IL-1ß and TNF-a. These conditions are manifested by periodic fever episodes associated with inflammatory manifestations of the skin, serous membranes, eyes, joints, gastrointestinal tract and nervous system. Most of these syndromes have an early onset, in the first years of life, but in some cases, particularly in Familial Mediterranean Fever and TNF receptor-associated periodic syndrome, adult onset has also been described. AA amyloidosis is the most serious complication of autoinflammatory syndromes and the one with more prognosis impact. Thus, diagnosed patients require ongoing clinical monitoring, with regular monitoring of serum amyloid A, even during asymptomatic periods. This close monitoring is necessary to prevent and to promptly treat a potential development of reactive amyloidosis, but also to evaluate the treatment efficacy. From a therapeutic point of view, colchicine is the gold standard treatment of familial Mediterranean fever, whereas non-steroidal anti-inflammatory drugs and corticosteroids are used mostly, with varied results, for symptomatic relief during crisis periods. The introduction of biological agents such as anti-TNF and anti-IL-1 has revolutionized the treatment for some of these syndromes even with the potential to reverse established amyloidosis. Objectives: the purpose of this dissertation is to describe the main pathophysiologic, genetic, clinic and therapeutic aspects of autoinflammatory syndromes. It is also reported and discussed two cases of TNF receptor-associated periodic syndrome diagnosed in the Cova da Beira Hospital. The ultimate goal is to increase knowledge and awareness of autoinflammatory diseases among healthcare workers. Methods: This was a retrospective and descriptive study whose target population consists of two patients diagnosed with TRAPS. The data about the patients was obtained through medical records analysis provided by the Rheumatology and Pediatrics Services of Hospital Cova da Beira, EPE, with proper superior authorization. The anonymity of the patients was maintained throughout the text in order to preserve confidentiality. The literature review was based on data collected in virtual databases such as PubMed, UpToDate, Medscape and SciELO. The research was conducted using the terms "autoinflamatory syndromes", "periodic fever syndromes", "inflamassome", "receptor-associated TNF autoinflamatory syndrome", "TRAPS", "Familial Hibernian Fever," "Familial Mediterranean Fever", "amyloidosis" "TNF Blocker". Data from the European register EUROFEVER / EUROTRAPS was also consulted. Conclusion: Because the rarity of these conditions may lead to delayed and to misdiagnosis, it is pertinent to promote the clinicians awareness, especially pediatric professionals, for the early detection of these disorders.
Introduction: Autoinflammatory syndromes (AIS) are a growing cluster of heterogeneous disorders characterized by recurrent systemic inflammation episodes. AIS are caused by innate immune system dysregulation (instead of the adaptive immune system) leading to aberrant inflammasome activation, with subsequent exaggerated production of proinflammatory cytokines such as IL-1ß and TNF-a. These conditions are manifested by periodic fever episodes associated with inflammatory manifestations of the skin, serous membranes, eyes, joints, gastrointestinal tract and nervous system. Most of these syndromes have an early onset, in the first years of life, but in some cases, particularly in Familial Mediterranean Fever and TNF receptor-associated periodic syndrome, adult onset has also been described. AA amyloidosis is the most serious complication of autoinflammatory syndromes and the one with more prognosis impact. Thus, diagnosed patients require ongoing clinical monitoring, with regular monitoring of serum amyloid A, even during asymptomatic periods. This close monitoring is necessary to prevent and to promptly treat a potential development of reactive amyloidosis, but also to evaluate the treatment efficacy. From a therapeutic point of view, colchicine is the gold standard treatment of familial Mediterranean fever, whereas non-steroidal anti-inflammatory drugs and corticosteroids are used mostly, with varied results, for symptomatic relief during crisis periods. The introduction of biological agents such as anti-TNF and anti-IL-1 has revolutionized the treatment for some of these syndromes even with the potential to reverse established amyloidosis. Objectives: the purpose of this dissertation is to describe the main pathophysiologic, genetic, clinic and therapeutic aspects of autoinflammatory syndromes. It is also reported and discussed two cases of TNF receptor-associated periodic syndrome diagnosed in the Cova da Beira Hospital. The ultimate goal is to increase knowledge and awareness of autoinflammatory diseases among healthcare workers. Methods: This was a retrospective and descriptive study whose target population consists of two patients diagnosed with TRAPS. The data about the patients was obtained through medical records analysis provided by the Rheumatology and Pediatrics Services of Hospital Cova da Beira, EPE, with proper superior authorization. The anonymity of the patients was maintained throughout the text in order to preserve confidentiality. The literature review was based on data collected in virtual databases such as PubMed, UpToDate, Medscape and SciELO. The research was conducted using the terms "autoinflamatory syndromes", "periodic fever syndromes", "inflamassome", "receptor-associated TNF autoinflamatory syndrome", "TRAPS", "Familial Hibernian Fever," "Familial Mediterranean Fever", "amyloidosis" "TNF Blocker". Data from the European register EUROFEVER / EUROTRAPS was also consulted. Conclusion: Because the rarity of these conditions may lead to delayed and to misdiagnosis, it is pertinent to promote the clinicians awareness, especially pediatric professionals, for the early detection of these disorders.
Description
Keywords
Amiloidose Febre Mediterrânica Familiar Il-1ß Imunidade Inata Síndrome Periódica Associada Ao Receptor Tnf Síndromes Auto-Inflamatórias Traps