Hipofisitis linfoplasmocitaria y fibrosis retroperitoneal asociadas a un síndrome poliglandular autoinmune: enfermedades relacionadas con IgG4. Caso clínico / Hypophysitis and retroperitoneal fibrosis associated with autoimmune polyglandular syndrome and IgG4-related disease: report of one case

We report a 23 year old woman presenting with a nephrotic syndrome due to minimal change disease, central diabetes insipidus, primary hypothyroidism, vitiligo and universal alopecia. Eleven years later, she presented secondary amenorrhea due to hypogonadotropic hypogonadism, with mild hyperprolactinemia and central adrenal insufficiency. A magnetic resonance imaging of the sella turcica showed a pituitary mass with suprasellar extension that was resected using a transsphenoidal approach. Pathology confirmed the presence of a lymphoplasmacytic hypophysitis. She needed a second surgical resection due to mass growth and neuro-ophthalmologic impairment. One year later, systemic lupus erythematosus, arterial hypertension and type 2 diabetes mellitus were diagnosed. Two years later, due to back pain, constipation and renal failure, retroperitoneal fibrosis was found, satisfactorily treated with glucocorticoids and colchicine. Hence, this clinical vignette shows the coexistence of autoimmune polyglandular syndrome with retroperitoneal fibrosis and lymphoplasmacytic hypophysitis. Tissue analysis showed the presence of IgG4 producing plasma cells in the pituitary and retroperitoneum, which constitute a basis for the diagnosis of IgG4 related disease.

Primary amenorrhea associated with hyperprolactinemia in polyglandular autoimmune syndrome type II: A case report / Amenorreia primária associada com hiperprolactinemia em síndrome poliglandular autoimune tipo 2: relato de caso

Abstract Polyglandular autoimmune syndrome type II (PGA-II) is a rare immunoendocrinopathy syndrome characterized by the occurrence of autoimmune Addison disease along with diabetes mellitus type 1 and/or autoimmune thyroid disease. Here, we report the case of a 23-year-old female with PGA-II who was followed up at the dermatology and endocrinology clinics of the Universidade Federal do Triângulo Mineiro, located in the state of Minas Gerais, Brazil. First, the patient presented diffuse skin hyperpigmentation, vitiligo; and in sequence, due to vomiting, appetite and weight loss, hypoglycemia, amenorrhea, and galactorrhea, the patient was then diagnosed with PGA-II. The patient also presented intense hyperprolactinemia due to primary hypothyroidism. The late diagnosis of PGA-II is frequent because the disorder is uncommon and has non-specific clinical manifestations. This report emphasizes the significance of a timely diagnosis and appropriate treatment to reduce morbidity and mortality associated with these diseases, especially Addison disease. The present study reports a rare case of a patient with PGA-II with primary amenorrhea associated with hyperprolactinemia.

Resumo A síndrome poliglandular autoimune tipo 2 (SPGA-2) é uma síndrome de imunoendocrinopatia rara caracterizada por doença de Addison autoimune associada à diabetes mellitus tipo 1 e/ou doenças tireoidianas autoimunes. Relatamos aqui o caso de uma paciente de 23 anos de idade com SPGA-2 que foi acompanhada nos ambulatórios de dermatologia e endocrinologia da Universidade Federal do Triângulo Mineiro, localizada no estado de Minas Gerais, Brasil. Primeiramente, a paciente apresentou hiperpigmentação cutânea difusa e vitiligo; posteriormente, por apresentar vômitos, hiporexia, perda ponderal, hipoglicemia, amenorreia e galactorreia, foi diagnosticada com SPGA-2. A paciente apresentou também intensa hiperprolactinemia secundária apenas ao hipotireoidismo primário. É comum o diagnóstico tardio da SPGA-2, pois a doença é rara e apresenta manifestações clínicas inespecíficas. Este relato de caso enfatiza a importância do diagnóstico e tratamento precoces como objetivo de reduzir a morbimortalidade associada a essas doenças, especialmente à doença de Addison. O presente estudo descreve um caso raro de uma paciente com SPGA-2 com amenorreia primária associada a hiperprolactinemia.

Psoriasis in autoimmune polyendocrine syndrome type I: A possible complication or a non-endocrine minor component.

Introduction: Autoimmune polyendocrine syndrome type I (APS I) is an autosomal recessive systemic autoimmune disorder, affecting primarily endocrine glands, in which chronic mucocutaneous candidiasis is an early and prominent manifestation. We describe the rare occurrence of unstable psoriasis (with onset of pustular lesions) in a case of APS I without mucocutaneous candidiasis. A patient presenting with unstable psoriasis (with onset of pustular lesions) was detected to have persistent hypocalcemia which led to the diagnosis of hypoparathyroidism. Subsequently he was found to have hypergonadotrophic hypogonadism, primary adrenal insuffi ciency (compensated), and coeliac disease, thus confi rming the diagnosis of APS I. Psoriasis is very rarely reported in APS I, possibly due to the protective effect of antibodies to Th17 cytokines, which are responsible for the occurrence of candidiasis in this syndrome. However, psoriasis could occur in APS I patients without mucocutaneous candidiasis, who lack these antibodies. In our patient, possible factors aggravating psoriasis include hypocalcemia due to hypoparathyroidism as well as coeliac disease via anti-tissue transglutaminase antibodies. However, defi ning psoriasis as a possible minor component of APS I would require further studies of the autoimmune regulator (AIRE) gene functions.

Polineuropatia hipotireóidea em um paciente com síndrome poliglandular autoimune tipo 2: relato de caso / Hypothyroid polyneuropathy in a patient with autoimmune polyglandular syndrome type 2: case report

A incidência de polineuropatia em indivíduos com hipotireoidismo não é precisamente conhecida, mas alguns estudos relatam que cerca de 25% a 42% dos pacientes podem apresentar sinais clínicos neuropáticos. A seguir, relataremos um caso de síndrome poliglandular autoimune tipo 2 (SPA-2), cuja apresentação inicial foi uma polineuropatia hipotireóidea. Homem de 41 anos com queixas de parestesias e fraqueza lentamente progressiva acometendo os quatro membros associadas a sonolência frequente, astenia, intolerância ao frio, vertigens, náuseas e avidez por sal. O exame físico geral evidenciava hiperpigmentação de pele e mucosas, além de hipotensão. O exame neurológico demonstrou apenas hiporreflexia profunda global e simétrica com discretos sinais de hipoestesia superficial em extremidades dos membros. O estudo eletroneuromiográfico (ENMG), juntamente com a avaliação laboratorial, confirmou a suspeita de tireoidite de Hashimoto associada à doença de Addison, caracterizando o quadro de SPA-2. O paciente foi tratado com fludrocortisona 0,05 mg/dia e levotiroxina 100 mcg/dia e apresentou resolução gradual e completa das queixas e das alterações encontradas nos exames físico geral e neurológico. O ENMG, repetido após seis meses, evidenciou resolução completa do quadro neuropático. Este relato mostra um caso raro de SPA-2 apresentando-se como uma polineuropatia hipotireóidea e reforça a relevância da dosagem de hormônios tireoideanos em síndromes polineuropáticas. A reposição de levotiroxina mostrou-se efetiva em reverter o quadro clínico e eletrofisiológico da neuropatia. .

The incidence of polyneuropathy in patients with hypothyroidism is not precisely known, but some studies report that about 25% to 42% of patients may show neuropathic clinical signs. We report a case of autoimmune poliglandular syndrome type 2 (APS-2), whose initial presentation was hypothyroid polyneuropathy. A 41-year-old man complained of slowly progressive paresthesias and weakness affecting all four limbs, and associated with frequent drowsiness, weakness, cold intolerance, dizziness, nausea, and craving for salt. General physical examination showed hyperpigmentation of skin and mucous membranes, and hypotension. Neurological examination showed global, deep, and symmetrical hyporeflexia with slight signs of superficial hypoesthesia in the limbs. Electrodiagnostic studies (ENMG) together with laboratory tests, confirmed the suspicion of Hashimoto’s thyroiditis associated with Addison’s disease featuring the picture of APS-2. The patient was treated with fludrocortisone 0.05 mg/day and levothyroxine 100 mcg/day, and showed gradual and complete resolution of complaints. Changes were found in general physical and neurological examinations. ENMG repeated six months later showed complete resolution of neuropathy. This report shows a rare case of APS-2 presented as polyneuropathy hypothyroidism, and reinforces the importance of dosing thyroid hormone in polyneuropathy syndromes. Levothyroxine replacement was shown to be effective in reversing clinical and electrophysiologic neuropathy.

Rastreio de síndrome poliglandular autoimune em uma população de pacientes com diabetes melito tipo 1 / Screening for autoimmune polyglandular syndrome in a cohort of patients with type 1 diabetes mellitus

OBJETIVO: Caracterizar uma população de pacientes com diabetes melito tipo 1 (DMT1) relativamente à presença de outras entidades autoimunes que permitam estabelecer o diagnóstico de síndrome poliglandular autoimune (SPGA). SUJEITOS E MÉTODOS: Incluímos 151 pacientes com DMT1. Analisamos os seguintes parâmetros clínicos: gênero, idade atual, duração da doença, antecedentes pessoais de patologia autoimune e antecedentes familiares de diabetes melito. Submetemos cada doente a um estudo laboratorial com o objetivo de detectar a presença de marcadores imunológicos para a tireoidite, insuficiência adrenocortical, gastrite e doença celíaca, e eventual disfunção associada. RESULTADOS: Coorte com 51,7% homens, idade média atual de 33,4 ± 13 anos e duração da doença de 14,4 ± 9,6 anos. Antecedentes pessoais de autoimunidade presentes em 2% da amostra e história familiar de diabetes melito em 31,1%. A frequência de marcadores imunológicos foi de 24% para a tireoidite, 9,4% para a insuficiência adrenocortical, 17,2% para a gastrite e 2% para a doença celíaca. Foi diagnosticada SPGA em 25,2% dos pacientes. O risco de SPGA e tireoidite autoimune foi superior em mulheres. A duração da doença correlacionou-se diretamente com a presença de autoanticorpos gástricos e inversamente com a positividade dos anticorpos anti-ilhota, antiglutamato descarboxilase e antitirosina fosfatase. Constatou-se a existência de uma associação entre os marcadores imunológicos da tireoidite e gastrite, bem como entre a doença celíaca e insuficiência adrenocortical. CONCLUSÃO: Atendendo à frequência e ao prognóstico inerente à SPGA, a necessidade de realizar rastreio em pacientes com DMT1 é enfatizada. O diagnóstico atempado de outras doenças autoimunes permitirá individualizar o tratamento e seguimento do doente.

OBJECTIVE: To characterize a cohort of patients with type 1 diabetes mellitus (T1DM) on the presence of other autoimmune disorders that could establish the diagnosis of autoimmune polyglandular syndrome (APS). SUBJECTS AND METHODS: We included 151 patients with T1DM. The following clinical parameters were analyzed: gender, current age, disease duration, previous history of autoimmune disorders, and familial history for diabetes mellitus. Each patient was analyzed to detect autoimmune markers of thyroiditis, adrenocortical insufficiency, gastritis, and celiac disease, as well as possible associated dysfunctions. RESULTS: A cohort with 51.7% males, average current age of 33.4 ± 13 years and disease duration of 14.4 ± 9.6 years was analyzed. Previous history of autoimmunity was found in 2%, and familial history for diabetes mellitus in 31.1% of the cohort. Frequency of autoimmune markers was 24% for thyroiditis, 9.4% for adrenocortical insufficiency, 17.2% for gastritis, and 2% for celiac disease. APS was diagnosed on 25.2% of the patients. APS and autoimmune thyroiditis risk was higher in females. Disease duration correlated directly with gastric autoantibodies, and inversely with positive islet cell, glutamic acid decarboxylase, and tyrosine phosphatase antibodies. We noticed a correlation between autoimmune markers for thyroiditis and gastritis, as well as between celiac disease and adrenocortical insufficiency. CONCLUSION: Considering APS prevalence and prognosis, the need for APS screening in patients with T1DM is emphasized. Early diagnosis of other autoimmune disorders will enable us to adjust each patient treatment and follow-up.

Miastenia gravis, tiroiditis de Hashimoto y enfermedad de Addison: APS II: necesidad de un manejo multidisciplinario / Adrenal failure associated with Myasthenia gravis and Hashimoto thyroiditis: report of one case

We report a 43 years old female with a history of myasthenia gravis diagnosed five years before and a Hashimoto thyroiditis diagnosed two years before, who was admitted to the hospital due to marked asthenia, hypotension, sustained hypoglycemia and weight loss. Due to the suspicion of an acute adrenal failure, intravenous hydrocortisone was started with a favorable evolution. Results of laboratory tests obtained before starting cortisone showed low cortisol and elevated ACTH levels.

Enfermedad de Addison como presentación de un síndrome pluriglandular autoinmune tipo 2 / Addison's disease as the mode of presentation of a type 2 pluriglandular syndrome

Los síndromes plurigandulares autoinmunes se definen por la coexistencia de al menos dos insuficiencias glandulares a consecuencia de una pérdida de la inmunotolerancia. Existen 4 tipos, siendo el tipo 2 el más frecuente. Es condición indispensable la presencia de insuficiencia suprarrenal primaria para hacer el diagnóstico de éste último, pudiendo muchas veces ésta preceder a las otras endocrinopatías que lo conforman: enfermedad tiroidea autoinmune y/o diabetes mellitus tipo 1. La insuficiencia suprarrenal primaria se caracteriza por la producción adrenal deficiente de cortisol, mineralocorticoides y andrógenos. Es una enfermedad poco frecuente que se presenta habitualmente en mujeres en edad media, siendo su etiología más prevalente la adrenalitis autoinmune. Se discute el caso de una paciente de 35 años que consulta por híperpigmentación de piel y episodios presincopales como presentación de una Enfermedad de Addison. La paciente presentó además amenorrea de 8 años de evolución y un bocio grado II lo cual nos llevó a plantear que era portadora de un sindrome plurigandular autoinmune tipo 2.

Síndrome Poliglandular Autoinmune Tipo II: Posible Asociación con HLA DRB1*-DQB1* / Possible association of Type II Autoimmune Polyendrocrine Syndrome with HLA DRB1*-DQB1*

Los síndromes poliendocrinos autoinmunes (APS) asocian enfermedades endocrinas autoinmunes con otros desórdenes autoinmunes no endocrinos. El APS tipo II se caracteriza por compromiso primario suprarrenal, tiroideo y/o DM tipo I. Presentamos un paciente masculino de 46 años que fue internado por astenia, adinamia, hiporexia, severa disminución de peso, mareos y vómitos. Antecedente de obesidad y diabetes diagnosticada 3 años antes. Presentaba hipotensión arterial, hiperpigmentación de mucosas y pliegues, anemia, hiponatremia e hipoglucemias frecuentes a pesar de la disminución de la dosis de insulina. Se diagnosticó insuficiencia suprarrenal, concomitantemente con hipotiroidismo y diabetes tipo 1, todas de origen autoinmune, iniciándose reemplazo hormonal. Se encontró una posible asociación del HLA DRB1*-DQB1* en los estudios genéticos. Conclusiones: Nuestro paciente presenta el HLA DQB1*0302 descripto en el APSII, pero el HLA DRB1 *08 encontrado no está descripto en este síndrome ni en ningún otro desorden autoinmune. En pacientes con Diabetes tipo 1 que disminuyan el requerimiento insulínico, habría que descartar insuficiencia suprarrenal, un componente del APS II, como factor etiológico, a pesar de su baja prevalencia.

Autoimmune polyendocrine syndromes (APS) are the association of autoimmune endocrine diseases with other non-endocrine autoimmune disorders. Type II APS is defined by occurrence of Addison´s disease with thyroid autoimmune disease and/or type 1 diabetes mellitus. We present a 46-year-old male patient who was hospitalized because of asthenia, adynamia, hyporexia, severe loss of weight, dizziness and vomiting. Diabetes mellitus had been diagnosed 3 years earlier when he was obese. He presented arterial hypotension, anemia, darkening of the skin and oral mucosa, hyponatremia and frequent hypoglycemia although his insulin dose was decreased. Adrenal insufficiency was diagnosed together with hypothyroidism and type 1 diabetes, all of them of autoimmune origin. Hormonal replacement treatment was initiated. Genetic studies were performed and a new polymorphism was found. Conclusions: HLA DRB1 *08 found in our patient has not been described in APS II or in any other autoimmune disorders. He also has HLA DQB1*0302 described in previous reports related to APS II. In type 1 diabetic patients whose insulin requirement decreases, it would be advisable to rule out adrenal insufficiency, a component of APS II, as an etiologic factor in spite of its low prevalence. In diabetic obese patients (mainly young) who lose weight without a defined cause, type 1 diabetes mellitus should be excluded.

Diabetes melito tipo 1 no contexto das poliendocrinopatias auto-imunes: [revisão] / Type 1 diabetes and autoimmune polyendocrine syndromes: [review]

Três entidades clínicas distintas, causadas por desarranjos genéticos, estão associadas a múltiplas desordens auto-imunes: síndrome linfoproliferativa auto-imune, poliendocrinopatias auto-imunes (APSs) e desregulação imune, poliendocrinopatia, enteropatia ligada ao X (IPEX). O diabetes melito auto-imune ou tipo 1 (DM1) pode estar presente nas APSs e na IPEX. A APS-1 caracteriza-se pela associação de candidíase crônica, hipoparatireoidismo e insuficiência adrenal auto-imune ou idiopática (doença de Addison), no entanto, o diabetes melito tipo 1 pode estar presente em até 12 por cento dos casos. A APS-2 inclui a doença de Addison (sempre presente), a doença tireoidiana auto-imune e o diabetes melito tipo 1, enquanto na APS-3 a doença tireoidiana se associa a outra doença imunológica, excluindo a insuficiência adrenal e o hipoparatireoidismo, e a APS-4 é composta por combinações diferentes das descritas anteriormente. Já a IPEX caracteriza-se por alteração rara da regulação auto-imune que resulta doenças auto-imunes de início precoce, envolvendo pâncreas, tireóide, intestino com diarréia secretora grave, eczema e anemia. O diagnóstico e o tratamento das doenças componentes das poliendocrinopatias e da IPEX são semelhantes ao da patologia na forma isolada.

Type 1 diabetes (T1D) is associated with autoimmune thyroid disease (AIT), celiac disease (CD), Addison's disease (AD), and other autoimmune diseases. These diseases can occur simultaneously in defined syndromes with distinct pathophysiology and characteristics: autoimmune polyendocrine syndromes (APSs) and the immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX). APSs were initially defined as a multiple endocrine gland insufficiency associated to an autoimmune disease in a patient. APS-1 is characterized by the evidence of chronic candidiasis, chronic hypoparathyroidism, AD and T1D could be present as part of this syndrome. The combination of autoimmune adrenal insufficiency with AIT and/or type 1 autoimmune diabetes mellitus defines APS-2. AIT associated to other autoimmune diseases (excluding AD and/or hypoparathyroidism) are the main characteristics of APS-3. Different clinical combinations of autoimmune diseases which were not included in the previous groups are the characteristics of APS-4. IPEX is a recessive disorder characterized by the neonatal onset of T1D, infections, enteropathy, thrombocytopenia and anemia, as well as endocrinopathy, eczema and cachexia. These disorders are not common, but their consequences can be life threatening when the diagnosis is overlooked, and the treatment is the same prescribed for isolated disease presentation.

Primary intestinal lymphangiectasia as a component of autoimmune polyglandular syndrome type I: a report of 2 cases.

Chronic diarrhea and steatorrhea occur frequently in patients with autoimmune polyglandular syndrome (APS) type I. Intestinal lymphangiectasia has been reported earlier as a cause of steatorrhea in a young girl with APS Type I. We describe 2 patients with APS Type I who were found to have intestinal lymphangiectasia, one of whom had symptomatic protein-losing enteropathy.

Anticuerpos anti 21 hidroxilasa séricos en pacientes con anticuerpos antifracción microsomal: síndrome poliendocrino autoinmune / Seric 21- hydroxilase antibodies in patients with anti-microsomal fraction antibodies: autoimmune polyendocrine syndrome

El síndrome poliendocrino autoinmune (SPA) es la asociación de enfermedades endocrinas autoinmunes con otros desórdenes autoinmunes no endocrinos. Los tipos 1, 2 y 4 presentan adrenalitis autoinmune, esto indica la presencia de autoanticuerpos, y su marcador serológico específico es el anti 21 hidroxilasa (a21-OH). El SPA tipo 2 es la asociación de adrenalitis, enfermedad tiroidea y/o diabetes mellitus inducidas por autoanticuerpos. Como componentes menores, pueden estar asociados entre otros, vitiligo, alopecia y miastenia. Nuestros objetivos fueron: establecer la prevalencia de a21-OH séricos en pacientes con anticuerpos anti fracción microsomal (AFM) positivos, enfermedad tiroidea autoinmune y/o afecciones endocrinas y no endocrinas autoinmunes; diagnosticar formas incompletas de SPA y estudiar individuos con probable riesgo de progresión a un SPA completo. Estudiamos 72 pacientes AFM positivos y 60 sujetos tomados como grupo control, AFM negativos. Hallamos a21-OH elevados en dos pacientes: A= 47 U/ml, hipotiroidismo autoinmune y miastenia; y B= 8.75 U/ml, hipotiroidismo autoinmune y vitiligo; ambos con ausencia de insuficiencia adrenal. La prevalencia de a21-OH encontrada fue del 2.8%. Las pacientes A y B corresponden a un SPA tipo 2 incompleto y latente en relación al componente adrenal. Considerando a los a21-OH marcadores de enfermedad autoinmune latente, el eventual riesgo de evolución hacia la afección clínica sugiere la necesidad de estrechos controles clínicos y bioquímicos periódicos.

Autoimmune polyendocrine syndrome (APS) is the association of autoimmune endocrine diseases, with other autoimmune nonendocrine disorders. APS types 1, 2 and 4 include autoimmune adrenalitis; this suggests the presence of autoantibodies. A specific serological marker for these is the anti 21- hydroxilase autoantibody (a21-OH). APS type 2 is the association of autoimmune adrenalitis, to autoimmune thyroid disease and/or diabetes mellitus, all these are induced by autoantibodies. Alopecia, vitiligo, myasthenia and other manifestations can be minor components. We sought to establish the prevalence of seric a21-OH in patients with positive anti-microsomal fraction autoantibodies, autoimmune thyroid disease and/or non-endocrine autoimmune diseases. We also aimed to diagnose incomplete forms of APS and to follow up patients at risk of progression to complete forms of APS. A population of 72 patients and another of 60 controls with negative anti-microsomal fraction autoantibodies were studied. Elevated seric a21-OH were found in two patients. Patient A with 47 U/ml had autoimmune hypothyroidism and myasthenia; and patient B with 8.75 U/ml had autoimmune hypothyrodism and vitiligo; they both lacked adrenal insufficiency. Seric a21-OH had a prevalence of 2.8%. Regarding the adrenal component, patients A and B had an incomplete and latent APS type 2. Considering a21-OH as markers of latent endocrine autoimmune diseases and taking into account the eventual risk of developing clinical manifestations, periodic biochemical and clinical follow-ups are recommended.

Síndrome autoinmune poliglandular tipo II: reporte de un caso y revisión de la literatura / Autoinmune polyglandular syndrome type II: a case report and review of literature

El síndrome autoinmune poliglandular (SAP) corresponde a una infrecuente entidad clínica que se reconoce por el compromiso de dos o más glándulas endocrinas basados en mecanismos autoinmunes, siendo posible además la afectación de órganos no endocrinos por esta misma causa. Debido a esto último el término síndrome autoinmune "poliendocrino", antes utilizado frecuentemente, ya no es completamente aceptado para referirse a esta patología. Actualmente existen dos grupos clásicos (SAP tipo I y tipo II) los cuales se clasifican de acuerdo a la edad de presentación de la enfermedad, combinaciones características de órganos comprometidos y patrón hereditario, entre otros. Además se describen otros dos grupos de menor importancia clínica llamados SAP tipo III y IV. A continuación se presenta un caso clínico pediátrico de SAP tipo II diagnosticado en el Hospital Herminda Martín de Chillán y una revisión actualizada de la literatura correspondiente.

Polyglandular autoimmune endocrinopathy in type 2 diabetes.

Polyglandular autoimmunity (PGA) type 2 presenting in childhood is extremely rare. We report a case of type 2 PGA who had hypothyroidism, followed by diabetic ketoacidosis and was later diagnosed to have adrenal insufficiency also.

Vitiligo y tiroiditis de Hashimoto: asociación o síndrome autoinmune? / Vitiligo and Hashimoto's thyroiditis: an association or an autoimmune syndrome?

Se sospecha de ciertos virus y otros agentes como causantes de la tiroiditis de Hashimoto, siendo bien conocida la asociación con otras entidades inmunes, entre ellas el vitiligo. Una vez disparados los fenómenos inmunológicos se generan anticuerpos contra los antígenos microbianos (o de otro tipo), pero también Ac. contra antígenos propios como los de la estructura tiroidea y la piel. En el vitiligo hay alta incidencia de anticuerpos organoespecíficos, pero también otros anticuerpos no organoespecíficos, sugiriéndose para los síndromes autoinmunes múltiples y las colagenopatías un fuerte parentesco clínico, laboratorial y quizá etiológico. En este caso clínico en particular la tarea del dermatólogo cobró importancia pues toda la investigación generada se debió a la repentina aparición de vitiligo en un paciente con síntomas vagos

Microangiopathic complications in type 1 diabetes mellitus: differences in severity when isolated or associated with autoimmune polyendocrinopathies

Context: The development and evolution of different chronic diabetic complications may present variations among the different types and conditions of this disease. Objective: To evaluate the degree of microangiopathy in Type 1 diabetes mellitus (DM1) associated with autoimmune polyendocrinopathies (OSAD) or isolated DM1 (iDM1). Patients: OSAD (n=17)and iDM1 (n=13) were over 15 years old at diagnosis of DM and were matched for diabetes duration (13.9 + 8.2 and 13.2 + 5.9 years, respectively) and metabolic control (HbA1c: 6.4 + 1.9 and 6.8 + 1.4 per cent). Main Outcome Measures: Urinary albumin excretion (UAE; ELISA), the inversion of serum creatinine (1/C) level and indirect ophthalmoscopy. Results: Although the prevalence of hypertension was similar in both groups, the OSAD had inferior levels of UAE (7.4 + 2.5 vs. 17.3 + 9.2 mug/min; p<0.05). Nephropathy was detected in 12 per cent of the OSAD (none of them macroproteinuric) and in 39 per cent of the iDM1. The UAE in the iDM1 correlated negatively with 1/C values (r= -0.7, p<0.005), but the same did not occur in the OSAD (r= 0.2, ns). Among patients with retinopathy, the severe form was found in 29 per cent of the OSAD and in 46 per cent of the iDM1. Conclusions. OSAD was associated with a lower degree of microangiopathy, in spite of age at diagnosis, duration of diabetes and the metabolic control. In contrast with the iDM1, the increase in UAE of OSAD was not associated with reductions in GFR.

Síndrome poliglandular autoinmune endocrino tipo III asociado con lupus eritematoso sistémico

El sindrome poliglandular endocrino autoinmune tipo III se define como la sociación de dos o mas endocrinopatias de caracter autoinmune, exceptuando la enferemdad de Addison (por ejemplo, la asociación de diabetes mellitus insulinodependiente y enfermedad tiroidea ya sea hiper o hipo tiroidismo), y una enfermedad autoinmune no endocrina. Tambien puede incluir la anemia perniciosa, el vitiligo y la alopecia. presenta ademas autoanticuerpos organoespecificos circulantes e infiltrado linfocitario en las glandulas afectadas. Informamos el caso de una mujer de 31 años con diabetes mellitus insulinodependiente, enfermedad de graves, vitiligo, e insuficiencia ovarica, en el contexto de un sindrome poliglandular endocrino autoinmune tipo III, asociado a lupus eritematoso sistemico, manifestado por anemia hemolitica autoinmune, poiserositis, artritis, alopecia, anticuerpos antinucleares positivos, elevación de anticuerpos anticardiolipinas, prolongacion de TTP y VDRL falsamente positivo

"Stiff-Man syndrome"associada a poliendocrinopatia autoimune : relato de um caso / Stiff-man syndrome associated with autoimune polyndocrinopathy : report of a case

Os autores relatam o caso de uma paciente de 29 anos, parda, portadora de "stiff-man syndrome" (SMS) associada a poliendocrinopatia do tipo II (moléstia de Basedow-Graves, diabetes mellitus tipo I e tiroidite de Hashimoto). A primeira endocrinopatia foi a doença de Graves que surgiu aos 12 anos e entrou em remissao após um período de tratamento clínico. As manifestaçoes de SMS surgiram há 5 anos, com enrijecimento e espasmos dolorosos dos músculos axiais, e hipertrofia de deltóide e trapézio, tendo desenvolvido diabetes mellitus insulino-dependente (DMI) 2 anos após SMS. Há 1 ano apresentou também hipotiroidismo subclínico (tiroidite de Hashimoto). Foram detectados anticorpos anti-decarboxilase do ácido glutâmico (anti-GAD) no líquor e no soro da paciente, o que confirma o diagnóstico de SMS. Estes autoanticorpos estao voltados contra uma proteína de massa molecular 64 Kd (GAD) e têm sido detectados em 80 por cento dos pacientes com DMI. Pacientes com SMS apresentam alta prevalência desses autoanticorpos e uma grande associaçao com DMI. Na paciente descrita foi possível detectar autoanticorpos contra vários tecidos alvo (tiróide, pâncreas e neurônios GABA-érgicos). Neste relato discute-se os critérios diagnósticos, a fisiopatologia da SMS e os mecanismos imunológicos que levam ao DMI nesta síndrome.