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Síndrome poliglandular autoimune tipo 2 : caso clínico e breve revisão
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As Síndromes Poliglandulares Autoimunes (SAPG) caracterizam-se pela presença de, no mínimo, duas doenças autoimunes do foro endócrino. As SAPG englobam um vasto espectro fenotípico e são classificadas em três tipos principais, consoante a sua etiopatogenia e associação de disfunções autoimunes.
A Síndrome Poliglandular Autoimune tipo 2, também conhecida por Síndrome de Schmidt e Síndrome de Carpenter, a forma mais comum de SAPG, é uma doença poligénica, com manifestações fenotípicas variadas, que atinge mais frequentemente mulheres na idade adulta. Devemos considerar esta hipótese diagnóstica no caso de um doente com Doença de Addison autoimune, associado a disfunção tiroideia autoimune e/ou Diabetes Mellitus tipo 1.
Para ilustrar esta síndrome apresenta-se o caso de um doente, de 20 anos, com o diagnóstico de Insuficiência suprarrenal autoimune, na sequência da instalação de quadro de astenia, anorexia, perda ponderal, hipotensão postural, mialgias generalizadas, dores abdominais e hiperpigmentação mucocutânea. Na sequência do seu seguimento em consulta de Endocrinologia, e cerca de 3 anos depois, inicia queixas de palpitações, nervosismo, insónias, taquicardia e tremor fino das mãos, sugestivas de hipertiroidismo. Os exames complementares realizados confirmaram tratar-se de um hipertiroidismo autoimune (Doença de Graves). A associação de insuficiência suprarrenal e hipertiroidismo autoimunes estabeleceu o diagnóstico de SAPG tipo II.
No âmbito deste caso clínico faz-se uma revisão sobre o diagnóstico e terapêutica de SAPG tipo 2.
Autoimmune Polyglandular Syndromes (APS) are characterized by the presence of, at least two autoimmune endocrine diseases. The SAPGs encompass a vast phenotypic spectrum and are classified into three main types, depending on their etiopathogenesis and association of autoimmune disorders. Polyglandular Autoimmune Syndrome type 2, also known as Schmidt and Carpenter Syndrome, the most common type of APS, is a polygenic disease with varied phenotypic manifestations. It mostly affects women in adulthood. We should consider this diagnostic hypothesis in the case of a patient with autoimmune Addison's disease associated with autoimmune thyroid disease and/or type 1 diabetes mellitus. To illustrate this syndrome, we present the case of a 20-year-old patient with the diagnosis of autoimmune adrenal insufficiency, following the installation of asthenia, anorexia, weight loss, postural hypotension, myalgias symptoms, abdominal pain and mucocutaneous hyperpigmentation. About 3 years later, on an Endocrinology follow-up visit, he complains of palpitations, nervousness, insomnia, tachycardia and fine hand tremor, suggestive of hyperthyroidism. The diagnostic findings of the exams that were carried out confirmed the diagnosis of autoimmune hyperthyroidism (Graves disease). The association of primary adrenal insufficiency and autoimmune hyperthyroidism established the diagnosis of APS type II. Within the scope of this clinical case, we review the diagnosis and treatment of APS type 2.
Autoimmune Polyglandular Syndromes (APS) are characterized by the presence of, at least two autoimmune endocrine diseases. The SAPGs encompass a vast phenotypic spectrum and are classified into three main types, depending on their etiopathogenesis and association of autoimmune disorders. Polyglandular Autoimmune Syndrome type 2, also known as Schmidt and Carpenter Syndrome, the most common type of APS, is a polygenic disease with varied phenotypic manifestations. It mostly affects women in adulthood. We should consider this diagnostic hypothesis in the case of a patient with autoimmune Addison's disease associated with autoimmune thyroid disease and/or type 1 diabetes mellitus. To illustrate this syndrome, we present the case of a 20-year-old patient with the diagnosis of autoimmune adrenal insufficiency, following the installation of asthenia, anorexia, weight loss, postural hypotension, myalgias symptoms, abdominal pain and mucocutaneous hyperpigmentation. About 3 years later, on an Endocrinology follow-up visit, he complains of palpitations, nervousness, insomnia, tachycardia and fine hand tremor, suggestive of hyperthyroidism. The diagnostic findings of the exams that were carried out confirmed the diagnosis of autoimmune hyperthyroidism (Graves disease). The association of primary adrenal insufficiency and autoimmune hyperthyroidism established the diagnosis of APS type II. Within the scope of this clinical case, we review the diagnosis and treatment of APS type 2.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2022
Palavras-chave
Síndrome Poliglandular Autoimune Autoimunidade Doença de Addison Doença de Graves Diabetes mellitus tipo 1 Endocrinologia