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Angioedema como apresentação atípica de Lúpus Eritematoso Sistémico Juvenil
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O Lúpus eritematoso sistémico juvenil é uma patologia autoimune, rara na idade pediátrica, que pode afetar vários órgãos e que se associa a importante morbilidade e mortalidade. O diagnóstico precoce contribui para um melhor prognóstico. Neste trabalho é descrita a evolução clínica de uma adolescente que, aos 12 anos, iniciou angioedema diário das pálpebras, lábios, face e membros, sem prurido, e sem urticária. Foram identificados anticorpos antinucleares e hipocomplementémia, sem deficiência ou disfunção do C1 inibidor. Foi medicada com hidroxicloroquina e prednisolona, com boa resposta. Por cefaleia intensa diária realizou exames imagiológicos cranioencefálicos e estudo da pressão do líquido cefalo-‐raquidiano, que foram normais. Os anticorpos anti-‐NMDA, anti-‐AQ4 e anti-‐MOG não foram detectados. Identificaram-‐se anticorpos anti-‐dsDNA e anti-‐C1q. Iniciou micofenolato de mofetil, com franca melhoria da cefaleia e do angioedema. Mais de um ano e meio depois do início do angioedema, surgiu eritema malar, poliartrite, fenómeno de Raynaud, linfopenia, hematúria microscópica e proteinuria não nefrótica, sem retenção azotada ou hipertensão arterial. Foi feito o diagnóstico de lúpus eritematoso sistémico juvenil. Com a apresentação deste caso clinico pretende-‐se realçar a importância de um diagnóstico diferencial cuidadoso e seguimento regular de doentes com angioedema de novo. Nesta tese reúne-‐se informação relevante sobre angioedema adquirido relacionado com Lúpus Eritematoso Sistémico.
Systemic lupus erythematosus is a chronic autoimmune disease, rare among children. It can affect all organs and cause great long-‐term morbidity and death. An earlier diagnosis is important to improve prognosis. It will be described a 12 year-‐old female, who had daily palpebral, lips, face and limbs angioedema, without pruritus or urticaria. It was detected antinuclear antibodies and hypocomplementemia. C1 inhibitor levels and functional test were normal. She was treated with hydroxicloroquine and prednisolone, with improvement. Due to daily severe headache, brain imaging and cerebrospinal fluid pressure were evaluated and were both normal. Anti-‐NMDA, anti-‐AQ4 and anti-‐MOG antibodies were not identified. Anti-‐dsDNA and anti-‐C1q antibodies were identified. Mycophenolate mofetil was started with improvement of the angioedema and headaches. More than a year and half after the onset of the angioedema, the patient developped malar rash, polyarthritis, Raynaud’s phenomenon, lymphopenia, microscopic hematuria and non-‐ nephrotic proteinuria, with normal renal function and blood pressure. The patient was diagnosed with juvenile systemic lupus erythematosus. We will discuss the need to perform a throurough investigation and follow-‐up in every patient with angioedema. We will also review angioedema as a presenting manifestation of systemic lupus erythematosus.
Systemic lupus erythematosus is a chronic autoimmune disease, rare among children. It can affect all organs and cause great long-‐term morbidity and death. An earlier diagnosis is important to improve prognosis. It will be described a 12 year-‐old female, who had daily palpebral, lips, face and limbs angioedema, without pruritus or urticaria. It was detected antinuclear antibodies and hypocomplementemia. C1 inhibitor levels and functional test were normal. She was treated with hydroxicloroquine and prednisolone, with improvement. Due to daily severe headache, brain imaging and cerebrospinal fluid pressure were evaluated and were both normal. Anti-‐NMDA, anti-‐AQ4 and anti-‐MOG antibodies were not identified. Anti-‐dsDNA and anti-‐C1q antibodies were identified. Mycophenolate mofetil was started with improvement of the angioedema and headaches. More than a year and half after the onset of the angioedema, the patient developped malar rash, polyarthritis, Raynaud’s phenomenon, lymphopenia, microscopic hematuria and non-‐ nephrotic proteinuria, with normal renal function and blood pressure. The patient was diagnosed with juvenile systemic lupus erythematosus. We will discuss the need to perform a throurough investigation and follow-‐up in every patient with angioedema. We will also review angioedema as a presenting manifestation of systemic lupus erythematosus.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2021
Palavras-chave
Lúpus eritematoso sistémico juvenil Angioedema Anticorpos anti C1q Pediatria