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Enteropatia perdedora de proteínas : a propósito de um caso clínico
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A enteropatia perdedora de proteínas (EPP) é uma entidade rara, caracterizada por perda proteica pelo trato gastrointestinal. É secundária a várias patologias, sendo uma delas a alergia alimentar. A enteropatia alérgica é uma forma de alergia alimentar não IgE mediada, associada a EPP. Descreve-se um caso clínico ilustrativo desta entidade e respetiva marcha diagnóstica. Criança de 2 anos e 10 meses, sexo feminino, com antecedentes familiares de atopia e pessoais de má progressão ponderal e sibilância recorrente. Aos 7 meses iniciou episódios recorrentes de edema palpebral e diarreia sem sangue, acompanhados de
hipoalbuminémia grave, sem proteinúria, que motivaram três internamentos. Da extensa investigação diagnóstica salienta-se: hipoalbuminémia (entre 2,1 e 3,3g/dL), hipogamaglobulinémia, IgE’s positivas para leite de vaca e α-lactoalbumina (classe 2) e β-lactoglobulina (classe 3). Os restantes exames complementares, incluindo marcadores de doença celíaca, serologias, α-1 antitripsina fecal, exames de imagem e endoscopia não foram contributivos.
Foi assumido o diagnóstico de EPP secundária a alergia às proteínas do leite de vaca (PLV) e iniciada dieta de evicção das PLV com melhoria clínica, mas com elevação modesta da albumina (máximo: 3,3g/dL). A reintrodução de PLV (aos 22 meses) foi acompanhada de agudização clínica e laboratorial, com necessidade de reinternamento e reposição de albumina, mantendo-se a evicção até à data atual.
Pela raridade e por não ter etiologia totalmente esclarecida, podendo apenas presumir-se uma enteropatia alérgica como etiologia provável, este caso constitui um desafio diagnóstico e terapêutico.
Protein-losing enteropathy (PLE) is a rare condition characterized by protein loss trough the gastrointestinal tract. It is secondary to a variety of diseases, including food allergy. Allergic enteropathy is a non-IgE mediated food allergy, associated with PLE. It is described a clinical case illustrative of this condition and its diagnosis. Child of 2 years and 10 months, female, with a family history of atopy and a personal history of poor weight gain and recurrent wheezing. At 7 months of age started with recurrent episodes of palpebral edema and diarrhea without blood, associated with marked hypoalbuminemia, without proteinuria, that motivated three hospitalizations. The diagnostic evaluation showed hypoalbuminemia (between 2,1 and 3,3g/dL), hypogammaglobulinaemia, positive IgE’s to cow’s milk, α-lactalbumin (class 2) and β-lactoglobulin (class 3). Other diagnostic exams, including celiac disease markers, serologies, fecal α-1 antitripsin, imagiologic exams and endoscopy did not give any contribution to the diagnosis. A diagnosis of PLE secondary to cow’s milk allergy was assumed and a diet with cow’s milk exclusion was started, which resulted in clinical improvement although only a mild increase in albumin (maximum: 3,3g/dL). The reintroduction of cow’s milk (at 22 months of age) was followed by clinical and laboratorial deterioration, which motivated a hospitalization and albumin replacement. The diet of exclusion is maintained until now. Due to the rarity and to the not totally explained etiology, that can only make us assume an allergic enteropathy as the most probable etiology, this case is challenging in its diagnosis and therapeutics.
Protein-losing enteropathy (PLE) is a rare condition characterized by protein loss trough the gastrointestinal tract. It is secondary to a variety of diseases, including food allergy. Allergic enteropathy is a non-IgE mediated food allergy, associated with PLE. It is described a clinical case illustrative of this condition and its diagnosis. Child of 2 years and 10 months, female, with a family history of atopy and a personal history of poor weight gain and recurrent wheezing. At 7 months of age started with recurrent episodes of palpebral edema and diarrhea without blood, associated with marked hypoalbuminemia, without proteinuria, that motivated three hospitalizations. The diagnostic evaluation showed hypoalbuminemia (between 2,1 and 3,3g/dL), hypogammaglobulinaemia, positive IgE’s to cow’s milk, α-lactalbumin (class 2) and β-lactoglobulin (class 3). Other diagnostic exams, including celiac disease markers, serologies, fecal α-1 antitripsin, imagiologic exams and endoscopy did not give any contribution to the diagnosis. A diagnosis of PLE secondary to cow’s milk allergy was assumed and a diet with cow’s milk exclusion was started, which resulted in clinical improvement although only a mild increase in albumin (maximum: 3,3g/dL). The reintroduction of cow’s milk (at 22 months of age) was followed by clinical and laboratorial deterioration, which motivated a hospitalization and albumin replacement. The diet of exclusion is maintained until now. Due to the rarity and to the not totally explained etiology, that can only make us assume an allergic enteropathy as the most probable etiology, this case is challenging in its diagnosis and therapeutics.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2016
Palavras-chave
Enteropatias perdedoras de proteínas Trato gastrointestinal Alergia Pediatria