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Esfingolipidoses e sua relação com doenças da cavidade oral: revisão integrativa
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As esfingolipidoses são um grupo de doenças metabólicas hereditárias raras, causadas pela deficiência de enzimas lisossomais que levam à acumulação de glicoesfingolípidos nos tecidos. Clinicamente, estas patologias, como a Doença de Fabry, a Doença de Gaucher e a Doença de Tay-Sachs aqui abordadas, caracterizam-se por uma disfunção multissistémica progressiva. Existem diversas alterações orais que estão diretamente relacionadas com estas doenças, comprometendo a saúde oral dos doentes. Deste modo, estes pacientes apresentam maior suscetibilidade ao desenvolvimento de patologias orais específicas com declínio da saúde oral geral.
Neste trabalho foi realizada uma revisão integrativa seguindo o modelo do Joanna Briggs Institute, com pesquisa nas bases de dados PubMed, ScienceDirect e Web of Science, utilizando combinações de termos MeSH relacionados com "Fabry disease", "Gaucher disease", "Tay-Sachs disease" e manifestações orais. Aplicando dos critérios de inclusão e exclusão, foram selecionados 12 artigos para análise, 8 sobre a doença de Gaucher e 4 sobre a doença de Fabry. Nesta pesquisa não foram encontrados artigos que focassem as alterações orais observadas na doença de Tay-Sachs. Verificou-se que as manifestações orais variam significativamente entre estas duas doenças. A doença de Fabry caracteriza-se pela presença de angioqueratomas e xerostomia, enquanto a doença de Gaucher apresenta predominantemente alterações radiográficas mandibulares, como rarefação óssea, e tendência hemorrágica. Face a estes resultados, o médico dentista pode desempenhar um papel fundamental no diagnóstico precoce através da identificação destes sinais e sintomas. Desta forma, aconselha-se uma abordagem multidisciplinar e a implementação de estratégias preventivas rigorosas para superar as dificuldades que possam surgir durante os tratamentos dentários e para melhorar a qualidade de vida destes doentes.
Sphingolipidoses are a group of rare hereditary metabolic diseases caused by lysosomal enzyme deficiency, leading to the accumulation of glycosphingolipids in tissues. Clinically, these pathologies, such as Fabry disease, Gaucher disease, and Tay-Sachs disease, which are discussed here, are characterised by progressive multisystemic dysfunction. There are several oral changes that are directly related to these diseases, compromising the oral health of patients. Thus, these patients are more susceptible to developing specific oral pathologies with a decline in overall oral health. In this study, an integrative review was conducted following the Joanna Briggs Institute model, with research in the PubMed, ScienceDirect, and Web of Science databases, using combinations of MeSH terms related to ‘Fabry disease’, ‘Gaucher disease’, ‘Tay-Sachs disease’, and oral manifestations. Applying the inclusion and exclusion criteria, 12 articles were selected for analysis, 8 on Gaucher disease and 4 on Fabry disease. No articles focusing on oral changes observed in Tay-Sachs disease were found in this search. It was found that oral manifestations vary significantly between these two diseases. Fabry disease is characterised by the presence of angiokeratomas and xerostomia, while Gaucher disease predominantly presents mandibular radiographic changes, such as bone rarefaction and a tendency to haemorrhage. Given these results, dentists can play a key role in early diagnosis by identifying these signs and symptoms. Therefore, a multidisciplinary approach and the implementation of rigorous preventive strategies are recommended to overcome the difficulties that may arise during dental treatment and to improve the quality of life of these patients.
Sphingolipidoses are a group of rare hereditary metabolic diseases caused by lysosomal enzyme deficiency, leading to the accumulation of glycosphingolipids in tissues. Clinically, these pathologies, such as Fabry disease, Gaucher disease, and Tay-Sachs disease, which are discussed here, are characterised by progressive multisystemic dysfunction. There are several oral changes that are directly related to these diseases, compromising the oral health of patients. Thus, these patients are more susceptible to developing specific oral pathologies with a decline in overall oral health. In this study, an integrative review was conducted following the Joanna Briggs Institute model, with research in the PubMed, ScienceDirect, and Web of Science databases, using combinations of MeSH terms related to ‘Fabry disease’, ‘Gaucher disease’, ‘Tay-Sachs disease’, and oral manifestations. Applying the inclusion and exclusion criteria, 12 articles were selected for analysis, 8 on Gaucher disease and 4 on Fabry disease. No articles focusing on oral changes observed in Tay-Sachs disease were found in this search. It was found that oral manifestations vary significantly between these two diseases. Fabry disease is characterised by the presence of angiokeratomas and xerostomia, while Gaucher disease predominantly presents mandibular radiographic changes, such as bone rarefaction and a tendency to haemorrhage. Given these results, dentists can play a key role in early diagnosis by identifying these signs and symptoms. Therefore, a multidisciplinary approach and the implementation of rigorous preventive strategies are recommended to overcome the difficulties that may arise during dental treatment and to improve the quality of life of these patients.
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Doença de Fabry Doença de Gaucher Doença de Tay-Sachs Manifestações orais Doenças orais Cavidade oral Saúde oral Doenças da boca Fabry disease Gaucher disease Tay-Sachs disease Oral manifestations Oral diseases Oral cavity Oral health Mouth disorders