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Síndrome de Melkersson-Rosenthal e doença celíaca : um caso clínico
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A doença celíaca (DC) é uma patologia com uma prevalência estimada de 1%, na população geral. Ainda que seja claro que esta patologia se desenvolve em indivíduos geneticamente predispostos em contexto de consumo de glúten, o papel de outros factores ambientais na patogénese desta doença não é ainda totalmente conhecido. A DC é uma doença autoimune sistémica caracterizada pela presença de sintomas gastrointestinais, nomeadamente sintomas de mal-absorção, dor e distensão abdominal, e/ou extra-gastrointestinais, tais como dermatite herpetiforme, fadiga, anemia ferropénica, cefaleias e depressão. O diagnóstico, em adultos, caracteriza-se actualmente pela avaliação serológica de anticorpos e análise de biópsias do intestino delgado. A DC pode posteriormente ser classificada consoante as suas características clínicas predominantes e os resultados serológicos e histopatológicos. O pilar da terapêutica da DC é, ainda, a implementação de uma dieta sem glúten. O Síndrome de Melkersson-Rosenthal (SMR) é uma patologia rara, de etiologia desconhecida, que consiste numa tríade de edema orofacial persistente ou recorrente, paralisia facial e língua escrotal (fissuras na língua). Raramente se observam os três achados clínicos da tríade característica simultaneamente, até porque estes sinais podem aparecer em diferentes períodos da vida do doente. A característica clínica mais comum é o edema orofacial. O diagnóstico do SMR é clínico, porém a avaliação histopatológica da pele/mucosa do lábio poderá actuar como auxiliar diagnóstico. O tratamento baseia-se na administração de corticosteróides. Este trabalho pretende relatar o caso clínico de uma paciente que, em diferentes períodos da sua vida, foi diagnosticada com ambas as patologias acima referidas e a influência destas nas diferentes esferas da sua saúde.
The prevalence of coeliac disease (CD) among the general population is estimated to be 1%. Although it is well understood that CD develops in genetically predisposed subjects exposed to gluten, the extent of other environmental factors in the pathogenesis of the disease is still not fully known. CD is a systemic autoimmune disease that can be associated with gastrointestinal symptoms, such as malabsorption findings, abdominal pain and distension, and/or nongastrointestinal findings, namely dermatitis herpetiformis, fatigue, iron deficiency anemia, migraines and depression. Diagnosis of CD in adults is currently based on serologic tests in combination with histopathological assessment of small intestinal biopsy specimens. CD can further be classified based on its main clinical findings and serological and histopathological results. Currently, the main therapeutic intervention for CD is a gluten-free diet. Melkersson-Rosenthal Syndrome (MRS) is a rare disorder, of unknown etiology, consisting of a triad of persistent or recurrent orofacial edema, facial paralysis and fissured tongue. It is rarely possible to observe all aspects of the classical triad at the same time, since these findings may appear in different times of life cycle. The most common finding is orofacial edema. MRS is diagnosed based on clinical features, however histopathological evaluation of the lip’s skin/mucosa may play an auxiliary role in the diagnosis. The treatment basis is corticosteroids. This paper’s purpose is to report a clinical case of a patient that, in different life stages, was diagnosed with both pathologies mentioned above, and their impact on her health.
The prevalence of coeliac disease (CD) among the general population is estimated to be 1%. Although it is well understood that CD develops in genetically predisposed subjects exposed to gluten, the extent of other environmental factors in the pathogenesis of the disease is still not fully known. CD is a systemic autoimmune disease that can be associated with gastrointestinal symptoms, such as malabsorption findings, abdominal pain and distension, and/or nongastrointestinal findings, namely dermatitis herpetiformis, fatigue, iron deficiency anemia, migraines and depression. Diagnosis of CD in adults is currently based on serologic tests in combination with histopathological assessment of small intestinal biopsy specimens. CD can further be classified based on its main clinical findings and serological and histopathological results. Currently, the main therapeutic intervention for CD is a gluten-free diet. Melkersson-Rosenthal Syndrome (MRS) is a rare disorder, of unknown etiology, consisting of a triad of persistent or recurrent orofacial edema, facial paralysis and fissured tongue. It is rarely possible to observe all aspects of the classical triad at the same time, since these findings may appear in different times of life cycle. The most common finding is orofacial edema. MRS is diagnosed based on clinical features, however histopathological evaluation of the lip’s skin/mucosa may play an auxiliary role in the diagnosis. The treatment basis is corticosteroids. This paper’s purpose is to report a clinical case of a patient that, in different life stages, was diagnosed with both pathologies mentioned above, and their impact on her health.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2019
Palavras-chave
Doença celíaca Síndrome de Melkersson-Rosenthal Caso clínico Otorrinolaringologia