RESUMO
La amiloidosis secundaria puede encontrarse en algunas enfermedades autoinflamatorias monogénicas. Presentamos el caso de un varón de 83 años sin antecedentes patológicos de interés. Tras detectarse una anemia ferropénica, se realizó una gastroscopia y la biopsia duodenal evidenció amiloidosis secundaria de tipo AA. El estudio de enfermedades autoinflamatorias reveló la variante heterocigota p.R92Q en el gen TNFRSF1A, siendo negativas las pruebas complementarias para otras causas de amiloidosis. En el síndrome TRAPS la amiloidosis secundaria puede asociarse a mutaciones que afectan a residuos cisteína, no habiéndose evidenciado su asociación con la variante p.R92Q. La amiloidosis secundaria puede estar presente en individuos portadores de la variante p.RQ92, por lo que es importante su diagnóstico para intentar prevenir posibles complicaciones.(AU)
Secondary amyloidosis can be found in some monogenic autoinflammatory diseases. In this study we present an 83-year-old man with no relevant medical history who presented with iron deficiency anaemia. In the study, a gastroscopy was performed with duodenum biopsy showing secondary AA-type amyloidosis. Genetic analyses of monogenic autoinflammatory diseases revealed the heterozygous p.R92Q variant in the TNFRSF1A gene, with negative results in the complementary tests for other causes of amyloidosis. In TRAPS, secondary amyloidosis has usually been associated with mutations affecting cysteine residues, but until now no association has been demonstrated with the p.RQ92 variant. Secondary amyloidosis may be present in carriers of the p.RQ92 variant, therefore it is important to diagnose it to prevent possible complications.(AU)
Assuntos
Humanos , Masculino , Idoso de 80 Anos ou mais , Amiloidose , Mutação , Doenças Hereditárias Autoinflamatórias , Anemia Ferropriva , Gastroscopia , Resultado do Tratamento , Pacientes Internados , Exame Físico , Avaliação de Sintomas , Reumatologia , Doenças ReumáticasRESUMO
Secondary amyloidosis can be found in some monogenic autoinflammatory diseases. In this study we present an 83-year-old man with no relevant medical history who presented with iron deficiency anaemia. In the study, a gastroscopy was performed with duodenum biopsy showing secondary AA-type amyloidosis. Genetic analyses of monogenic autoinflammatory diseases revealed the heterozygous p.R92Q variant in the TNFRSF1A gene, with negative results in the complementary tests for other causes of amyloidosis. In TRAPS, secondary amyloidosis has usually been associated with mutations affecting cysteine residues, but until now no association has been demonstrated with the p.RQ92 variant. Secondary amyloidosis may be present in carriers of the p.RQ92 variant, therefore it is important to diagnose it to prevent possible complications.
RESUMO
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